Author: "Evans, Dafydd" / Database: OpenAIRE - Searchworks@Jio Institute Digital Library Search Results

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53 results on '"Evans, Dafydd"'

1. Preparing for Gaia Searches for Optical Counterparts of Gravitational Wave Events during O4

Author: Biswas, Sumedha, Kostrzewa-Rutkowska, Zuzanna, Jonker, Peter G., Vreeswijk, Paul, Eappachen, Deepak, Groot, Paul J., Hodgkin, Simon, Yoldas, Abdullah, Rixon, Guy, Harrison, Diana, van Leeuwen, M., and Evans, Dafydd
Subjects: High Energy Astrophysical Phenomena (astro-ph.HE), FOS: Physical sciences, Astrophysics - High Energy Astrophysical Phenomena
Abstract: The discovery of gravitational wave (GW) events and the detection of electromagnetic counterparts from GW170817 has started the era of multimessenger GW astronomy.The field has been developing rapidly and in this paper,we discuss the preparation for detecting these events with the ESA Gaia satellite,during the 4th observing run of the LIGO-Virgo-KAGRA (LVK) collaboration that has started on May 24,2023. Gaia is contributing to the search for GW counterparts by a new transient detection pipeline called GaiaX. In GaiaX, a new source appearing in the field of view of only one of the two telescopes on-board Gaia is sufficient to send out an alert on the possible detection of a new transient. Ahead of O4, an experiment was conducted over a period of about two months. During the two weeks around New Moon in this period of time, the MeerLICHT (ML) telescope located in South Africa tried (weather permitting) to observe the same region of the sky as Gaia within 10 minutes. Any GaiaX detected transient was published publicly. ML and Gaia have similar limiting magnitudes for typical seeing conditions at ML. At the end of the experiment, we had 11861 GaiaX candidate transients and 15806 ML candidate transients, which we further analysed and the results of which are presented in this paper. Finally, we discuss the possibility and capabilities of Gaia contributing to the search for electromagnetic counterparts of gravitational wave events during O4 through the GaiaX detection and alert procedure., 13 pages, 9 figures; Submitted to MNRAS
Published: 2023

2. Mixing and air–sea buoyancy fluxes set the time-mean overturning circulation in the subpolar North Atlantic and Nordic Seas

Author: Evans, Dafydd Gwyn, Holliday, N. Penny, Bacon, Sheldon, and Le Bras, Isabela
Abstract: The overturning streamfunction as measured at the OSNAP (Overturning in the Subpolar North Atlantic Program) mooring array represents the transformation of warm, salty Atlantic Water into cold, fresh North Atlantic Deep Water (NADW). The magnitude of the overturning at the OSNAP array can therefore be linked to the transformation by air–sea buoyancy fluxes and mixing in the region north of the OSNAP array. Here, we estimate these water mass transformations using observational-based, reanalysis-based and model-based datasets. Our results highlight that air–sea fluxes alone cannot account for the time-mean magnitude of the overturning at OSNAP, and therefore a residual mixing-driven transformation is required to explain the difference. A cooling by air–sea heat fluxes and a mixing-driven freshening in the Nordic Seas, Iceland Basin and Irminger Sea precondition the warm, salty Atlantic Water, forming subpolar mode water classes in the subpolar North Atlantic. Mixing in the interior of the Nordic Seas, over the Greenland–Scotland Ridge and along the boundaries of the Irminger Sea and Iceland Basin drive a water mass transformation that leads to the convergence of volume in the water mass classes associated with NADW. Air–sea buoyancy fluxes and mixing therefore play key and complementary roles in setting the magnitude of the overturning within the subpolar North Atlantic and Nordic Seas. This study highlights that, for ocean and climate models to realistically simulate the overturning circulation in the North Atlantic, the small-scale processes that lead to the mixing-driven formation of NADW must be adequately represented within the model's parameterisation scheme.
Published: 2023

3. Immune checkpoint inhibitors efficacy across solid cancers and the utility of PD-L1 as a biomarker of response: a systematic review and meta-analysis

Author: Fitzsimmons, Timothy S., Singh, Niharika, Walker, Thomas D. J., Newton, Claire, Evans, Dafydd G. R., Crosbie, Emma J., and Ryan, Neil A. J.
Subjects: General Medicine
Abstract: BackgroundImmune checkpoint inhibitors (ICPI) are a tumor agnostic treatment. However, trials of their use have been site specific. Here we summarize the trial data and explore the utility of programmed death-ligand 1 (PD-L1) expression as a biomarker to direct their pan-cancer use.MethodA systematic review of literature, following PRISMA guidelines, was performed. Medline, Embase, Cochrane CENTRAL, NHS Health and Technology, and Web of Science were searched from their conception to June 2022 limited to the English language. The search terms and method were devised by a specialist medical librarian. Studies were limited to adults with solid cancers (excluding melanomas) treated with ICPIs. Only phase III randomized control trials (RCT) were included. The primary outcome was overall survival and secondary outcomes were progression free survival, PD-L1 expression, quality of life outcomes and adverse event data. Where present in eligible clinical trials, hazard ratios (HR), risk ratios (RR), standard error (SE) and 95% confidence intervals (CI) were extracted or calculated. Heterogeneity across studies was described with the use of an I2 score (Low: 25, 50%: moderate, 75% low heterogeneity). HR pools inverse variance methods were adopted by Random Effects (RE). Means were standardized across any heterogenous scale limits.ResultsIn total 46,510 participants were included in the meta-analysis. Overall, meta-analysis favored the use of ICPIs with an overall survival (OS) HR of 0.74 (95% CI 0.71 to 0.78). Lung cancers showed the most benefit in OS [HR 0.72 (95% 0.66–0.78)] followed by head and neck cancers [HR 0.75 (95% CI 0.66–0.84)] and gastroesophageal junction cancers [HR 0.75 (95% CI 0.61–0.92)]. ICPIs seem to be efficacious at both primary presentation and recurrence [OS HR 0.73 (95% CI 0.68–0.77)] vs. [OS HR 0.79 (95% CI 0.72 to 0.87)] respectively. Interestingly, subgroup analysis comparing studies in which most cancers demonstrated PD-L1 expression vs. those studies in which a minority of cancer demonstrated PD-L1 expression reported similar effect of ICPI use on OS; oddly the data favored ICPI use in studies with a minority of PD-L1 expression. Specifically, studies with minority PD-L1 expression had an HR 0.73 (95% CI 0.68–0.78) vs. studies with majority PD-L1 expression HR 0.76 (95% CI 0.70–0.84). This was maintained even when studies exploring the same cancer site were directly compared. Subgroup analysis was performed comparing the impact on OS subdivided by the specific ICPI used. Where meta-analysis was performed, Nivolumab led to the greatest impact [HR 0.70 (95% CI 0.64–0.77)] with Avelumab failing to reach significance [HR 0.93 (95% CI 0.80–1.06)]. However, overall heterogenicity was high (I2 = 95%). Finally, the use of ICPIs led to an improved side effect profile when compared with standard chemotherapy [RR 0.85 (95% CI 0.73–0.98)].ConclusionICPIs improve survival outcomes in all cancer types. These effects are seen in the primary, recurrent, chemotherapy sensitive, chemotherapy resistant disease. These data support their use as a tumor agnostic therapy. Furthermore, they are well tolerated. However, PD-L1 as a biomarker for the targeting of ICPI use seems problematic. Other biomarkers such as mismatch repair or tumor mutational burden should be explored in randomized trials. In addition, there are still limited trials looking at ICPI use outside of lung cancer.
Published: 2023

4. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author: Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Jenkins, Mark A., European Hereditary Tumour Group, International Mismatch Repair Consortium, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Møller, Pål, Seppälä, Toni, Dowty, James G, Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J, Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, De, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S, Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnu, Loeffler, Marku, Rahner, Nil, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K, Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J, Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G, Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J, van Hest, Liselotte P, Ricciardiello, Luigi, Kohonen-Corish, Maija R J, Ligtenberg, Marjolijn J L, Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N, Samadder, N Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J, James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thoma, van Overeem Hansen, Thoma, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L, Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Figueiredo, Jane, Buchanan, Daniel D, Thibodeau, Stephen N, Ten Broeke, Sanne W, Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J, Mints, Miriam, Tjandra, Dougla, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthia, Sampson, Julian R, Jenkins, Mark A, Human genetics, Cancer Center Amsterdam, CCA - Cancer biology and immunology, ATG - Applied Tumor Genomics, HUS Abdominal Center, Clinicum, II kirurgian klinikka, Department of Surgery, University of Helsinki, Department of Medical and Clinical Genetics, Tampere University, Clinical Medicine, and TAYS Cancer Centre
Subjects: koloskopia, European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), Epidemiology, 3122 Cancers, ehkäisy, colorectal cancer, Penetrance, segregaatio, läpäisevyys, suolistosyövät, GUIDELINES, over-diagnosis, SDG 3 - Good Health and Well-being, prevention, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, penetrance, Lynchin oireyhtymä, Epidemiologia, Segregation analysis, Over-diagnosi, Genetics (clinical), segregation analysis, Science & Technology, Incidence, Prevention, Colonoscòpia, GERMLINE MUTATIONS, Colonoscopy, prospective, CARRIERS, Colorectal cancer, 3142 Public health care science, environmental and occupational health, Prospective, Lynch syndrome, Oncology, Lynch Syndrome, Over-diagnosis, incidence, CLINICAL MANAGEMENT, ilmaantuvuus, Life Sciences & Biomedicine
Abstract: Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.
Published: 2022

5. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Author: Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development
Subjects: VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study
Abstract: Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published
Published: 2022

6. Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author: Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
Abstract: Additional file 1.
Published: 2022
Full Text: View/download PDF

7. Whole-genome sequencing of patients with rare diseases in a national health system

Author: Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes
Subjects: 0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
Abstract: Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
Published: 2021

8. Statistical tests based on R\'{e}nyi entropy estimation

Author: Cadirci, Mehmet Siddik, Evans, Dafydd, Leonenko, Nikolai, and Seleznjev, Oleg
Subjects: Mathematics - Statistics Theory
Abstract: Entropy and its various generalizations are important in many fields, including mathematical statistics, communication theory, physics and computer science, for characterizing the amount of information associated with a probability distribution. In this paper we propose goodness-of-fit statistics for the multivariate Student and multivariate Pearson type II distributions, based on the maximum entropy principle and a class of estimators for R\'{e}nyi entropy based on nearest neighbour distances. We prove the L^2-consistency of these statistics using results on the subadditivity of Euclidean functionals on nearest neighbour graphs, and investigate their rate of convergence and asymptotic distribution using Monte Carlo methods. In addition we present a novel iterative method for estimating the shape parameter of the multivariate Student and multivariate Pearson type II distributions.
Published: 2021

9. Statistical tests based on R��nyi entropy estimation

Author: Cadirci, Mehmet Siddik, Evans, Dafydd, Leonenko, Nikolai, and Seleznjev, Oleg
Subjects: FOS: Mathematics, Statistics Theory (math.ST)
Abstract: Entropy and its various generalizations are important in many fields, including mathematical statistics, communication theory, physics and computer science, for characterizing the amount of information associated with a probability distribution. In this paper we propose goodness-of-fit statistics for the multivariate Student and multivariate Pearson type II distributions, based on the maximum entropy principle and a class of estimators for R��nyi entropy based on nearest neighbour distances. We prove the L^2-consistency of these statistics using results on the subadditivity of Euclidean functionals on nearest neighbour graphs, and investigate their rate of convergence and asymptotic distribution using Monte Carlo methods. In addition we present a novel iterative method for estimating the shape parameter of the multivariate Student and multivariate Pearson type II distributions.
Published: 2021
Full Text: View/download PDF

10. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author: Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2020

11. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author: Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, and Promovendi CD
Subjects: 0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors
Abstract: Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1–3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans. © 2020, The Author(s), under exclusive licence to Springer Nature Limited., Wellcome Trust, WT: 104807/Z/14/Z University College London, UCL: 100140/Z/12/Z, 107212/Z/15/Z, MR/L019027, 203141/Z/16/Z, 091157/Z/10/Z Bundesministerium für Bildung und Forschung, BMBF: 01ZX1306A University of Cambridge 201250/Z/16/Z 01ZX1709 Seventh Framework Programme, FP7 NIHR Bristol Biomedical Research Centre Deutsche Forschungsgemeinschaft, DFG Deutsche Forschungsgemeinschaft, DFG: EXC 2167-390884018 Juvenile Diabetes Research Foundation United Kingdom, JDRF: 9-2011-253, 5-SRA-2015-130-A-N National Institute for Health Research, NIHR: RG65966 Medical Research Council, MRC: RG95376, MR/L006197/1 Great Ormond Street Hospital for Children, GOSH, Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC.
Published: 2020

12. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Author: Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., and Maher, Eamonn R.
Subjects: Adult, Male, Genetic Variation, Middle Aged, inherited cancer genetics, Article, genetic testing, Neoplasms, Multiple Primary, Phenotype, whole-genome sequencing, cancer-predisposition syndromes, Biomarkers, Tumor, Humans, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Aged
Abstract: Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.
Published: 2018

13. Correction: The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges

Author: Fountain, Daniel M., Smith, Miriam J., O’Leary, Claire, Pathmanaban, Omar N., Roncaroli, Federico, Bobola, Nicoletta, King, Andrew T., and Evans, Dafydd Gareth
Subjects: Cancer Research, Genotype, Kruppel-Like Transcription Factors, Correction, Kruppel-Like Factor 4, Phosphatidylinositol 3-Kinases, Phenotype, Differentiation, Mutation, Meningeal Neoplasms, Genetics, Humans, Hedgehog Proteins, Meningioma, Cancer genetics, Proto-Oncogene Proteins c-akt, Molecular Biology, Signal Transduction
Abstract: Meningiomas are the most common primary brain tumor and their incidence and prevalence is increasing. This review summarizes current evidence regarding the embryogenesis of the human meninges in the context of meningioma pathogenesis and anatomical distribution. Though not mutually exclusive, chromosomal instability and pathogenic variants affecting the long arm of chromosome 22 (22q) result in meningiomas in neural-crest cell-derived meninges, while variants affecting Hedgehog signaling, PI3K signaling, TRAF7, KLF4, and POLR2A result in meningiomas in the mesodermal-derived meninges of the midline and paramedian anterior, central, and ventral posterior skull base. Current evidence regarding the common pathways for genetic pathogenesis and the anatomical distribution of meningiomas is presented alongside existing understanding of the embryological origins for the meninges prior to proposing next steps for this work.
Published: 2021

14. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Author: Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Ines, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stephanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, Ross, Robert V MacKenzie, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Noordegraaf, Anton Vonk, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Tregouet, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Graf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F, Christian, Martin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri VV, Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C, Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mlanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Geoghegan, Claire, Gerighty, Terry, Gibbs, Simon, Gilmour, Kimberley, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hague, William, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael, Lalloo, Fiona, Lambert, Michele, Allen, Hana Lango, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S, Marschall, Hanns-Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moore, Tony, Morrell, Nicholas, Mozere, Monika, Muir, Keith, Mumford, Andrew, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Ong, Kai Ren, Ormondroyd, Elizabeth, Ouwehand, Willem, Papadia, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F Lucy, Rayner-Matthews, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Schulman, Sol, Scully, Marie, Searle, Claire, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth GC, Snape, Katie, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Swietlik, Emilia, Tait, R Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, Von Ziegenweidt, Julie, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Whitehorn, Deborah, Whitworth, James, Williamson, Catherine, Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Theuer, Alison, Malur, Anagha, Williams, Ann, Dotson, Anne, Warden, Ashley, Harrington, Brandy, Vang, Brenda, Ziemak, Caitlin, Casanova, Nancy, Caskey, Elizabeth, MacDonald, Catherine, Rowley, Courtney, Larimore, Daniel, Brady, Daniela, Tomer, David, Davis, Anne, Broach, Debra, Devereux, Jane, Lovato, Ellen, Stratton, Eric, Turk, Erin, Jackson, Esperanza, Paciotti, Gina, Peichel, Gretchen, Birru, Hellina, del Junco, Holly, Ingledue, Rebecca, Bruno, Jackie, Drake, Jan, Marks, Jennifer, Pisarcik, Jessica, Spears, Jill, Santiago, Joseph, DeMartino, Jordyn, Beckmann, Joy, Palmer, Julia, Visnaw, Karen, Kennedy, Karla, Lewis, Karlise, Miller-Reed, Kathleen, Hannon, Kelly, McClain, Kimberly, Dillon, Laura, Olanipekun, Lekan, Mendibles, Lillian, Hawke, Lindsey, Brody, Linnea, Durst, Louise, Andrews, Mary, Allahua, Melissa, Stratoberdha, Melissa, Lemma, Merte, Cope, Molly, Franzo, Mya, Feliz, Natalia, Hawkes, Nicholas, Norwood, Tracy, Wilson, Opal, Palmisciano, Amy, Gruhlke, Peggy, Correa, Priscilla, Blake, Randy, Karnekar, Reema, Do, Robyn, Rohwer, Kristal, Ahmed, Sara, Schiltz, Kimberly, Scovel, Page, Cordell, Shannon, Heuerman, Sharon, Ahmad, Shazzra, Szuberla, Sylwia, Roads, Tammy, Iem, Thoeun, Mcgaha, Traci, Urban, Tracy, Aston, Valerie, Ayesh, Waleed, Light, Allison, Arkon, Abby, Tavlarides, Andrea, Anderson, Audrey, Bindu, John, Boekwig, Deedre, Singleton, Donna, Abrea, Inna, Lee, Jennifer, Ormiston, Mark, Whitman, Renesa, Holy, Royanne, Almeida-Peters, Sisama, Igenoza, Tosin, Farber, Hap, Reponen, Auvo, Barve, Mukta, Gygi, Amber, and Winslow, Clayborne
Subjects: ALPHA, Science & Technology, Critical Care Medicine, ENDODERM FORMATION, General & Internal Medicine, Respiratory System, SUSCEPTIBILITY, SOX17, Life Sciences & Biomedicine, DISEASE
Abstract: BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes. METHODS: We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses. FINDINGS: A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity. INTERPRETATION: This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. FUNDING: UK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR. ispartof: LANCET RESPIRATORY MEDICINE vol:7 issue:3 pages:227-238 ispartof: location:England status: published
Published: 2019

15. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Author: Whitworth, James, Smith, Philip S, Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T, Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, and Woodward, Emma R
Subjects: whole-genome sequencing, cancer-predisposition syndromes, inherited cancer genetics, genetic testing
Abstract: Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.
Published: 2018

16. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Author: Whitworth, James, Smith, Philip S, Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T, Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R, NIHR BioResource Rare Diseases Consortium, Tischkowitz, Marc D, Maher, Eamonn R, RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9), Med Microbiol, Infect Dis & Infect Prev, Freson, Kathleen, Peerlinck, Kathelijne, Van Geet, Christel, Whitworth, James [0000-0002-3682-2298], Smith, Philip [0000-0002-9306-1747], Maher, Eamonn [0000-0002-6226-6918], and Apollo - University of Cambridge Repository
Subjects: Adult, Male, PHEOCHROMOCYTOMA, DNA-SEQUENCING DATA, FAMILIES, genetic testing, COLORECTAL-CANCER, Neoplasms, Multiple Primary, cancer-predisposition syndromes, Biomarkers, Tumor, Humans, BREAST-CANCER, HUMAN GENOME, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, RISK, Genetic Variation, GERMLINE MUTATIONS, Middle Aged, FRAMEWORK, inherited cancer genetics, Phenotype, SUSCEPTIBILITY GENE, whole-genome sequencing, Female
Abstract: Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals. ispartof: AMERICAN JOURNAL OF HUMAN GENETICS vol:103 issue:1 pages:3-18 ispartof: location:United States status: published
Published: 2018

17. Copy Number Variants (CNVs) Affecting Cancer Predisposing Genes (CPGs) Detected As Incidental Findings In Routine Germline Diagnostic Chromosomal Micro-Array (CMA) Testing

Author: Innes, Josie, Reali, Lisa, Clayton-Smith, Jill, Hall, Georgina, Lim, Derek, Burghel, George, French, Kim, Khan, Unzela, Walker, Daniel, Lalloo, Fiona, Evans, Dafydd, McMullan, Dominic, Maher, Eamonn R., and Woodward, Emma R.
Abstract: Background Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results.Methods We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility.Results In the pilot cohort, 31/3366 (0.92%) individuals had a CNV involving one or more of 16/39 CPGs. 30/31 CNVs involved a tumour suppressor gene (TSG), and 1/30 a proto-oncogene (gain of MET). BMPR1A, TSC2 and TMEM127 were affected in multiple cases. In the second stage analysis, 49/10 454 (0.47%) individuals in the extended cohort had 50 CNVs involving 24/105 CPGs. 43/50 CNVs involved a TSG and 7/50 a proto-oncogene (4 gains, 3 deletions). The most frequently involved genes, FLCN (n=10) and SDHA (n=7), map to the Smith-Magenis and cri-du-chat regions, respectively.Conclusion Incidental identification of a CNV involving a CPG is not rare and poses challenges for future cancer risk estimation. Prospective data collection from CPG-CNV cohorts ascertained incidentally and through syndromic presentations is required to determine the risks posed by specific CNVs. In particular, ascertainment and investigation of adults with CPG-CNVs and adults with learning disability and cancer, could provide important information to guide clinical management and surveillance.
Published: 2018

18. All-sky RR Lyrae Stars in the Gaia Data

Author: Rimoldini, Lorenzo, Eyer, Laurent, Mowlavi, Nami, Evans, Dafydd W., Nienartowicz, Krzysztof, Holl, Berry, Audard, Marc, Guy, Leanne P., de Fombelle, Grégory Jevardat, Lecoeur-Taïbi, Isabelle, Marchal, Olivier, Clementini, Gisella, Ripepi, Vincenzo, Garofalo, Alessia, Molinaro, Roberto, Muraveva, Tatiana, Poretti, Ennio, Molnár, László, Plachy, Emese, Juhász, Áron L., Szabados, László, De Ridder, Joris, Regibo, Sara, Baro, Luis Manuel Sarro, and del Fresno, Mauro López
Subjects: Astrophysics - Solar and Stellar Astrophysics, FOS: Physical sciences, Astrophysics - Instrumentation and Methods for Astrophysics, Instrumentation and Methods for Astrophysics (astro-ph.IM), Solar and Stellar Astrophysics (astro-ph.SR)
Abstract: The second Gaia data release is expected to contain data products from about 22 months of observation. Based on these data, we aim to provide an advance publication of a full-sky Gaia map of RR Lyrae stars. Although comprehensive, these data still contain a significant fraction of sources which are insufficiently sampled for Fourier series decomposition of the periodic light variations. The challenges in the identification of RR Lyrae candidates with (much) fewer than 20 field-of-view transits are described. General considerations of the results, their limitations, and interpretation are presented together with prospects for improvement in subsequent Gaia data releases., Comment: 5 pages, 1 figure, Proceedings of the RR Lyrae 2017 Conference (Revival of the Classical Pulsators: from Galactic Structure to Stellar Interior Diagnostics), to be published in the Proceedings of the Polish Astronomical Society
Published: 2018
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19. RV Walton Smith Cruise WS18066, 4-16 March 2018. MerMEED microstructure cruise report

Author: Evans, Dafydd
Abstract: The MerMEED (Mechanisms responsible for Mesoscale Eddy Energy Dissipation) project is a NERCfunded project (NE/N001745/1) to investigate the levels of dissipation associated with eddies at a western boundary, in order to identify the mechanisms responsible. Mesoscale eddies are ubiquitous in the worlds oceans, and can be found in the subtropical Atlantic travelling slowly westward (at 4–5 cm/s), with a radius of about 100 km. These eddies are formed through baroclinic instability or wind forcing across the Atlantic, but when they reach the western boundary (east coast of the USA), they disappear from the satellite altimetry record. This disappearance of eddies occurs throughout the worlds oceans at western boundaries, but from altimetry alone, it is not known whether they disappear because energy is transferred to other wave modes or the mean flow, or whether it is locally dissipated through eddy-topography interactions.This is the third cruise of the MerMEED project. The purpose of this cruise was to (1) make microstructure temperature and shear measurements in order to measure dissipation at the intersection of an anticyclonic eddy and the steep topography to the east of Abaco, Bahamas, and (2) deploy standard Seagliders. Of these, the standard Seagliders were intended to remain in the area for 4 months. During the 9 day cruise, 46 profiles of microstructure data were collected using a tethered microstructure profiler, and a shipboard 75 kHz ADCP collected concurrent measurements of ocean currents. This cruise is the third cruise for the MerMEED project, and the data collected are intended to complement additional field operations, including moored instruments added to the RAPID array (thermistors and ADCPs on the WB1 mooring).
Published: 2018

20. Recommendations for Surveillance for predisposition to early onset brain tumors: Gorlin syndrome and Rhabdoid Tumor Predisposition Syndrome

Author: Foulkes, William D, Kamihara, Junne, Evans, Dafydd, Brugières, Laurence, Bourdeaut, Franck, Molenaar, Jan, Walsh, Michael, Brodeur, Garrett M, and Diller, Lisa
Subjects: Gorlin, Surveillance, SUFU, PTCH1, Germline, SMARCA4, Basal cell, SMARCB1, Medulloblastoma, rhabdoid
Abstract: Gorlin syndrome and Rhabdoid Tumor Predisposition Syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first three years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway (SHH), including Patched1 (PTCH1) and Suppressor of fused (SUFU). SUFU mutation carriers appear to have an especially high risk of early onset medulloblastoma. Surveillance MRI in the first years of life in SUFU mutation carriers is therefore recommended. Given the risk of basal cell carcinomas, regular dermatologic examinations and sun protection are also recommended. Rhabdoid tumors (RT) are tumors initially defined by the descriptive “rhabdoid” term, implying a phenotypic similarity with rhabdomyoblasts at the microscopic level. RTs usually present before the age of 3 and can arise within the cranium as atypical teratoid/rhabdoid tumors (AT/RT) or extra-cranially, especially in the kidney, as malignant rhabdoid tumors (MRT). However, RTs of both types share germline and somatic mutations in SMARCB1 or, more rarely, SMARCA4, each of which encode a chromatin remodeling family member. SMARCA4 mutations are particularly associated with small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The outcome following a diagnosis of any of these tumors is often poor and the value of surveillance is unknown. International efforts to determine surveillance protocols are underway, and preliminary recommendations are made for carriers of SMARCB1 and SMARCA4 mutations.
Published: 2017

21. The impact of a panel of 18 single nucleotide polymorphisms on breast cancer risk in women attending a UK familial-screening clinic: A case-control study

Author: Evans, Dafydd, Brentnall, Adam R, Byers, Helen, Harkness, Elaine, Stavrinos, Paula, Howell, Anthony, Newman, William, and Cuzick, Jack
Subjects: BRCA1, BRCA2, Single Nucleotide Polymorphisms (SNPs), Polygenic risk score (PRS), breast cancer, skin and connective tissue diseases
Abstract: Background:Breast cancer familial-risk clinics offer screening and preventive strategies. Whilst BRCA1/BRCA2 genetic testing provides important risk information for some women, panels of more common breast cancer risk genetic variants may have relevance to greater numbers of women with familial risk.Methods:Three polygenic risk scores(PRS) based on 18 single nucleotide polymorphisms(SNPs) were investigated in a case-control study of women attending a familial-risk clinic. PRS were derived from published general European population allele odds ratios and frequencies (18-SNPs-SNP18). In women with BRCA1/BRCA2 mutations, 3 SNPs/13 SNPs, respectively generated the PRS estimates. In total 364 incident breast cancer cases(112 with BRCA1/2 mutations) were matched to 1605 controls(691-BRCA1/2) by age last mammogram and BRCA1/2 genetic test result. 87 women with cancer before attendance were also considered. Logistic regression was used to measure PRS performance through odds ratios per inter-quartile range(IQ-OR) and calibration of the observed to expected(O/E) logarithm relative risk when unadjusted and adjusted for phenotypic risk factors assessed by the Tyrer-Cuzick(TC) model.Results:SNP18 was predictive for non-carriers of BRCA1/2 mutations (IQ-OR 1.55, 95%CI:1.29-1.87, O/E 96%). Findings were unaffected by adjustment from TC (IQ-OR 1.56, 95%CI:1.29-1.89) or when prior cancers were included (IQ-OR 1.55, 95%CI:1.30-1.87). There was some evidence to support polygenic scores with weights for individuals with BRCA1/2 mutations (BRCA1 IQ-OR 1.44, 95%CI:1.17-1.76;BRCA2 IQ-OR 1.44, 95%CI:0.90-2.31).Conclusion:Polygenic risk scores may be used to refine risk assessment for women at increased familial risk who test negative/have low likelihood of BRCA1/2 mutations. They may alter the recommended prevention strategy for many women attending family-history clinics.
Published: 2017

22. Identification of twelve novel susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Evans, Dafydd
Subjects: endocrine system diseases, female genital diseases and pregnancy complications
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3, 9q31.1) and one for endometrioid EOC (5q12.3). We then meta-analysed the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified an additional three loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a novel susceptibility gene for low grade/borderline serous EOC.
Published: 2017

23. Theia: Faint objects in motion or the new astrometry frontier

Author: Boehm, Celine, Krone Martins, Alberto, Amorim, Antonio, Anglada Escude, Guillem, Brandeker, Alexis, Courbin, Frederic, Ensslin, Torsten, Falcao, Antonio, Freese, Katherine, Holl, Berry, Labadie, Lucas, Leger, Alain, Malbet, Fabien, Mamon, Gary, Mcarthur, Barbara, Mora, Alcione, Shao, Michael, Sozzetti, Alessandro, Spolyar, Douglas, Villaver, Eva, Albertus, Conrado, Bertone, Stefano, Bouy, Herve, Boylan Kolchin, Michael, Brown, Anthony, Brown, Warren, Cardoso, Vitor, Chemin, Laurent, Claudi, Riccardo, Correia, Alexandre C. M., Crosta, Mariateresa, Crouzier, Antoine, Cyr Racine, Francis Yan, Damasso, Mario, da Silva, Antonio, Davies, Melvyn, Das, Payel, Dayal, Pratika, de Val Borro, Miguel, Diaferio, Antonaldo, Erickcek, Adrienne, Fairbairn, Malcolm, Fortin, Morgane, Fridlund, Malcolm, Garcia, Paulo, Gnedin, Oleg, Goobar, Ariel, Gordo, Paulo, Goullioud, Renaud, Hambly, Nigel, Hara, Nathan, Hobbs, David, Hog, Erik, Holland, Andrew, Ibata, Rodrigo, Jordi, Carme, Klioner, Sergei, Kopeikin, Sergei, Lacroix, Thomas, Laskar, Jacques, Le Poncin Lafitte, Christophe, Luri, Xavier, Majumdar, Subhabrata, Makarov, Valeri, Massey, Richard, Mennesson, Bertrand, Michalik, Daniel, Moitinho de Almeida, Andre, Mourao, Ana, Moustakas, Leonidas, Murray, Neil, Muterspaugh, Matthew, Oertel, Micaela, Ostorero, Luisa, Perez Garcia, Angeles, Platais, Imants, de Mora, Jordi Portell i, Quirrenbach, Andreas, Randall, Lisa, Read, Justin, Regos, Eniko, Rory, Barnes, Rybicki, Krzysztof, Scott, Pat, Schneider, Jean, Scholtz, Jakub, Siebert, Arnaud, Tereno, Ismael, Tomsick, John, Traub, Wesley, Valluri, Monica, Walker, Matt, Walton, Nicholas, Watkins, Laura, White, Glenn, Evans, Dafydd Wyn, Wyrzykowski, Lukasz, and Wyse, Rosemary
Subjects: Theia, astrometry, astrometry, Theia
Published: 2017

24. Additional file 1: Table S1. of Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

Author: Seppälä, Toni, Pylvänäinen, Kirsi, Evans, Dafydd, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Sigve Nakken, Hovig, Eivind, Rødland, Einar, Kukatharmini Tharmaratnam, Cappel, Wouter De Vos Tot Nederveen, Hill, James, Wijnen, Juul, Jenkins, Mark, Genuardi, Maurizio, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Frayling, Ian, John-Paul Plazzer, Sampson, Julian, Capella, Gabriel, Möslein, Gabriela, Jukka-Pekka Mecklin, and Møller, Pål
Abstract: Annual incidence rates (AIR) and 95% confidence intervals for colorectal cancer and extra-colonic cancer. (DOCX 15 kb)
Published: 2017
Full Text: View/download PDF

25. Assessing recent air-sea freshwater flux changes using a surface temperature-salinity space framework

Author: Grist, Jeremy P., Josey, Simon A., Zika, Jan D., Evans, Dafydd G., and Skliris, Nikolaos
Abstract: A novel assessment of recent changes in air-sea freshwater fluxes has been conducted using a surface temperature-salinity framework applied to four atmospheric reanalyses. Viewed in the T-S space of the ocean surface, the complex pattern of the longitude-latitude space mean global Precipitation minus Evaporation (PME) reduces to three distinct regions. The analysis is conducted for the period 1979-2007 for which there is most evidence for a broadening of the (atmospheric) tropical belt. All four of the reanalyses display an increase in strength of the water cycle. The range of increase is between 2%-30% over the period analysed, with an average of 14%. Considering the average across the reanalyses, the water cycle changes are dominated by changes in tropical as opposed to mid-high latitude precipitation. The increases in the water cycle strength, are consistent in sign, but larger than in a 1% greenhouse gas run of the HadGEM3 climate model. In the model a shift of the precipitation/evaporation cells to higher temperatures is more evident, due to the much stronger global warming signal. The observed changes in freshwater fluxes appear to be reflected in changes in the T-S distribution of the Global Ocean. Specifically, across the diverse range of atmospheric reanalyses considered here, there was an acceleration of the hydrological cycle during 1979-2007 which led to a broadening of the ocean's salinity distribution. Finally, although the reanalyses indicate that the warm temperature tropical precipitation dominated water cycle change, ocean observations suggest that ocean processes redistributed the freshening to lower ocean temperatures.
Published: 2016

26. Heating and Cooling or Ebbing and Flowing? Oceanic Change from a Thermohaline Perspective

Author: Evans, Dafydd Gwyn
Abstract: This thesis develops and applies novel methods to understand water mass variability and change in the global ocean. A water mass framework is developed that determines the diathermal and diahaline transformations of water between water mass classes from the temporal variations in their volumetric distribution. Water masses are defined in terms of their temperature and salinity. This reveals the roles of air--sea fluxes, mixing and transport changes. The second chapter explores the drivers of interannual variability in the overturning circulation in the North Atlantic subtropical gyre using the water mass framework. Variations in the volumetric distribution of water masses reveal that transport anomalies at the gyre boundaries predominantly set the volume and heat budget and that these transport anomalies are governed by Ekman pumping over the gyre. In the third and fourth chapters of this thesis the water mass framework is applied to observations of temperature and salinity in the Southern Ocean. Seasonal variations in the distribution of water masses reveal the imprint of the Southern Ocean overturning. This highlights the importance of seasonally varying air-sea fluxes in the formation of intermediate water at the expense of deep water, winter water and surface water. This reveals a diabatic pathway for the upwelling and conversion of deep water into intermediate water. Deep water is first cooled and freshened during the winter by mixing with overlying winter water triggered by a cabbeling instability. Sea ice-melt and surface heating then warm and freshen this seasonally formed water mass to create intermediate water during the summer months. These results suggest that the process of cabbeling could be a rate determining step in the global overturning circulation and the upwelling of deep waters. The fifth chapter of this thesis explores an alternative method to determine a volumetric distribution using individual Argo profiles. The volumetric distribution determined using this profile based estimate is compared to the distribution calculated using a geographically interpolated dataset. This comparison reveals that the interpolation scheme used to geographically grid Argo appears to artificially mix water masses toward the centre of the distribution.
Published: 2016

27. Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

Author: Saunders, Edward J, Dadaev, Tokhir, Leongamornlert, Daniel A, Al Olama, Ali Amin, Benlloch, Sara, Giles, Graham G, Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A, Schleutker, Johanna, Nordestgaard, Borge G, Travis, Ruth C, Neal, David, Pasayan, Nora, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen N, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Brenner, Hermann, Park, Jong Y, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Pandha, Hardev, Govindasami, Koveela, Muir, Ken, Easton, Douglas F, Eeles, Rosalind A, Kote-Jarai, Zsofia, and Evans, Dafydd
Subjects: Male, Risk, DNA Repair, Genotype, BRCA1 Protein, Genes, BRCA2, Prostatic Neoplasms, Cell Cycle Proteins, DNA, urologic and male genital diseases, Polymorphism, Single Nucleotide, DNA-Binding Proteins, DNA Repair Enzymes, Case-Control Studies, Humans, Genetic Predisposition to Disease, Prospective Studies, Germ-Line Mutation, Genome-Wide Association Study
Abstract: BACKGROUND: Germline mutations within DNA-repair genes are implicated in susceptibility to multiple forms of cancer. For prostate cancer (PrCa), rare mutations in BRCA2 and BRCA1 give rise to moderately elevated risk, whereas two of B100 common, low-penetrance PrCa susceptibility variants identified so far by genome-wide association studies implicate RAD51B and RAD23B.METHODS: Genotype data from the iCOGS array were imputed to the 1000 genomes phase 3 reference panel for 21 780 PrCa cases and 21 727 controls from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium. We subsequently performed single variant, gene and pathway-level analyses using 81 303 SNPs within 20 Kb of a panel of 179 DNA-repair genes.RESULTS: Single SNP analyses identified only the previously reported association with RAD51B. Gene-level analyses using the SKAT-C test from the SNP-set (Sequence) Kernel Association Test (SKAT) identified a significant association with PrCa for MSH5. Pathway-level analyses suggested a possible role for the translesion synthesis pathway in PrCa risk and Homologous recombination/Fanconi Anaemia pathway for PrCa aggressiveness, even though after adjustment for multiple testing these did not remain significant.CONCLUSIONS: MSH5 is a novel candidate gene warranting additional follow-up as a prospective PrCa-risk locus. MSH5 has previously been reported as a pleiotropic susceptibility locus for lung, colorectal and serous ovarian cancers.
Published: 2016

28. Au carrefour des routes d’Europe : la chanson de geste. Tome I

Author: Aragon, Aurora, Arnaldi, Girolamo, Bancourt, Paul, Barone, Giulia, Beltrán Pepió, Vicente, Bennett, Philip E., Boutet, Dominique, Brault, Gérard J., Brucker, Charles, Buschinger, Danielle, Calin, William, Cirlot, Victoria, Cobby, Anne, Colby-Hall, Alice M., Cramer-Vos, Marianne, Deschaux, Robert, Drzewicka, Anna, Duijvestijn, Bob W. Th., Evans, Dafydd, Finet Van Der Schaaf, Baukje, Fontana, Giovanni, Fourquet, Jean, Gegou, Fabienne, Gosman, Martin, Grigsby, John L., Grillo, Peter, Guidot, Bernard, kibler, William, Simoni, Fiorella, Suard, François, Thomas, Jacques, and Tyssens, Madeleine
Subjects: Medieval & Renaissance Studies, intertextualité, littérature médiévale, épopée, Poetry, LIT011000, DSBB, chanson de geste
Published: 2014

29. Theia: Faint objects in motion or the new astrometry frontier

Author: Boehm, Céline, Krone-Martins, Alberto, Amorim, António, Anglada-Escudé, Guillem, Brandeker, Alexis, Courbin, Frederic, Enßlin, Torsten, Falcão, António, Freese, Katherine, Holl, Berry, Labadie, Lucas, Leger, Alain, Malbet, Fabien, Mamon, Gary, Mcarthur, Barbara, Mora, Alcione, Shao, Michael, Sozzetti, Alessandro, Spolyar, Douglas, Villaver, Eva, Albertus, Conrado, Bertone, Stefano, Bouy, Hervé, Boylan-Kolchin, Michael, Brown, Anthony, Brown, Warren, Cardoso, Vitor, Chemin, Laurent, Claudi, Riccardo, Correia, Alexandre C. M., Crosta, Mariateresa, Crouzier, Antoine, Cyr-Racine, Francis-Yan, Damasso, Mario, Da Silva, António, Davies, Melvyn, Das, Payel, Dayal, Pratika, Val-Borro, Miguel, Diaferio, Antonaldo, Erickcek, Adrienne, Fairbairn, Malcolm, Fortin, Morgane, Fridlund, Malcolm, Garcia, Paulo, Gnedin, Oleg, Goobar, Ariel, Gordo, Paulo, Goullioud, Renaud, Hambly, Nigel, Hara, Nathan, Hobbs, David, Hog, Erik, Holland, Andrew, Ibata, Rodrigo, Jordi, Carme, Klioner, Sergei, Kopeikin, Sergei, Lacroix, Thomas, Laskar, Jacques, Le Poncin-Lafitte, Christophe, Luri, Xavier, Majumdar, Subhabrata, Makarov, Valeri, Massey, Richard, Mennesson, Bertrand, Michalik, Daniel, Almeida, André Moitinho, Mourão, Ana, Moustakas, Leonidas, Murray, Neil, Muterspaugh, Matthew, Oertel, Micaela, Ostorero, Luisa, Perez-Garcia, Angeles, Platais, Imants, I Portell I Mora, Jord, Quirrenbach, Andreas, Randall, Lisa, Read, Justin, Regos, Eniko, Rory, Barnes, Rybicki, Krzysztof, Scott, Pat, Schneider, Jean, Jakub Scholtz, Siebert, Arnaud, Tereno, Ismael, Tomsick, John, Traub, Wesley, Valluri, Monica, Walker, Matt, Walton, Nicholas, Watkins, Laura, White, Glenn, Evans, Dafydd Wyn, Wyrzykowski, Lukasz, Wyse, Rosemary, Abbas, Ummi, Alimi, Jean-Michel, Altmann, Martin, Alves, João, Anderson, Richard, Arenou, Frédéric, Bailer-Jones, Coryn, Carlton, Baugh, Biermann, Michael, Blanco-Cuaresma, Sergi, Bonomo, Aldo Stefano, Broderick, Avery, Busso, Giorgia, Cabrera, Juan, Carrasco, Josep Manel, Carvalho, Carla Sofia, Castellani, Marco, Cermeño-Gavilán, Marina, Chadwick, Paula, Darling, Jeremy, Davidson, Michael, Angeli, Francesca, Carvalho, Reinaldo, Desidera, Silvano, Done, Chris, Ducourant, Christine, Erkal, Denis, Eyer, Laurent, Famey, Benoit, Feltzing, Sofia, Garcia, Emilio Fraile, Gomez, Facundo Ariel, Frenk, Carlos, Gai, Mario, Galli, Phillip, Galluccio, Laurent, Gavras, Panagiotis, Giacobbe, Paolo, Gratton, Raffaele, Guglielmetti, Fabrizia, Gunther, Eike, Hall, David, Harrison, Diana, Hatzes, Artie, Hestroffer, Daniel, Ishida, Emille, Jablonka, Pascale, Jacobs, Christopher, Janson, Markus, Jasche, Jens, Jauzac, Mathilde, Jones, Hugh, Jonker, Peter, Julbe, Francesc, Kneib, Jean-Paul, Kordopatis, Georges, Lancon, Arianne, Lattanzi, Mario Gilberto, Leguidou, Jean-Michel, Lehnert, Matt, Lehto, Harry, Lopes, Ilidio, Maldonado, Jesus, Marconi, Marcella, Martin, Nicolas, Marie-Elisabeth, Maury, Mazumdar, Anupam, Michtchenko, Tatiana, Minardi, Stefano, Munoz, Carlos, Murante, Giuseppe, Musella, Ilaria, Gerhard, Ortwin, Pagano, Isabella, Pani, Paolo, Paetzold, Martin, Daniel, Pfenniger, Piotto, Giampaolo, Preis, Olivier, Produit, Nicolas, Prost, Jean-Pierre, Rauer, Heike, Raymond, Sean, Reinaldo, Rosa, Revaz, Yves, Rita, Ribeiro, Rimoldini, Lorenzo, Huguet, Arnau Rios, Ripepi, Vincenzo, Rocci, Pier-Francesco, Rodriguez Frias, Maria D., Rosa, Reinaldo R., Sahlmann, Johannes, Saltas, Ippocratis, E E Lemos, José Pizarro Sand, Sarro, Luis M., Schaefer, Bjoern Malte, Schewtschenko, Jascha, Segransan, Damien, Selsis, Franck, Silk, Joe, Silva, Manuel, Solitro, Filomena, Spagna, Alessandro, Springel, Volker, Süveges, Maria, Teixeira, Ramachrisna, Shindou, Tetsuo, Thebault, Philippe, Tian, Feng, Turon, Catherine, Valle, José W. F., Vasiliev, Eugene, Vladilo, Juan, Martin, Vollmann, Ward, Martin, Weller, Jochen, Wilkinson, Mark, Wolf, Sebastian, Xiaoting, Fu, Yamada, Yoshiyuki, Zschocke, Sven, Zucker, Shay, Institut d'astrophysique spatiale (IAS), Université Paris-Sud - Paris 11 (UP11)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Centre National d’Études Spatiales [Paris] (CNES), Université Grenoble Alpes (UGA), Institut d'Astrophysique de Paris (IAP), Institut national des sciences de l'Univers (INSU - CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Observatoire de Paris - Site de Paris (OP), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Institut de Mécanique Céleste et de Calcul des Ephémérides (IMCCE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Lille-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA), Observatoire de Paris - Site de Meudon (OBSPM), Observatoire de Paris, Laboratoire Univers et Théories (LUTH (UMR_8102)), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Galaxies, Etoiles, Physique, Instrumentation (GEPI), Laboratoire d'Astrophysique de Bordeaux [Pessac] (LAB), Université de Bordeaux (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Observatoire de la Côte d'Azur (OCA), Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Université Blaise Pascal - Clermont-Ferrand 2 (UBP), Centre National d’Études Spatiales [Paris] (CNES), Joseph Louis LAGRANGE (LAGRANGE), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Theia, Université Paris-Sud - Paris 11 (UP11)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Institut national des sciences de l'Univers (INSU - CNRS), PSL Research University (PSL)-PSL Research University (PSL)-Université de Lille-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), PSL Research University (PSL)-PSL Research University (PSL)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Observatoire de Paris, Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut national des sciences de l'Univers (INSU - CNRS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Observatoire de la Côte d'Azur, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), and HEP, INSPIRE
Subjects: [PHYS.PHYS.PHYS-INS-DET] Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], Physics::Space Physics, Astrophysics::Instrumentation and Methods for Astrophysics, FOS: Physical sciences, Astrophysics::Earth and Planetary Astrophysics, [PHYS.PHYS.PHYS-INS-DET]Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], Astrophysics - Instrumentation and Methods for Astrophysics, Instrumentation and Methods for Astrophysics (astro-ph.IM), Astrophysics::Galaxy Astrophysics
Abstract: In the context of the ESA M5 (medium mission) call we proposed a new satellite mission, Theia, based on relative astrometry and extreme precision to study the motion of very faint objects in the Universe. Theia is primarily designed to study the local dark matter properties, the existence of Earth-like exoplanets in our nearest star systems and the physics of compact objects. Furthermore, about 15 $\%$ of the mission time was dedicated to an open observatory for the wider community to propose complementary science cases. With its unique metrology system and "point and stare" strategy, Theia's precision would have reached the sub micro-arcsecond level. This is about 1000 times better than ESA/Gaia's accuracy for the brightest objects and represents a factor 10-30 improvement for the faintest stars (depending on the exact observational program). In the version submitted to ESA, we proposed an optical (350-1000nm) on-axis TMA telescope. Due to ESA Technology readiness level, the camera's focal plane would have been made of CCD detectors but we anticipated an upgrade with CMOS detectors. Photometric measurements would have been performed during slew time and stabilisation phases needed for reaching the required astrometric precision., Comment: http://theia.phyip3.dur.ac.uk

30. Erratum: Gaia Early Data Release 3: Summary of the contents and survey properties (Astronomy and Astrophysics DOI: 10.1051/0004-6361/202039657)

Author: Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Babusiaux, C, Biermann, M, Creevey, OL, Evans, DW, Eyer, L, Hutton, A, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Soubiran, C, Walton, NA, Arenou, F, Bailer-Jones, CAL, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Van Leeuwen, F, Bakker, J, Cacciari, C, Castañeda, J, De Angeli, F, Ducourant, C, Fabricius, C, Fouesneau, M, Frémat, Y, Guerra, R, Guerrier, A, Guiraud, J, Jean-Antoine Piccolo, A, Masana, E, Messineo, R, Mowlavi, N, Nicolas, C, Nienartowicz, K, Pailler, F, Panuzzo, P, Riclet, F, Roux, W, Seabroke, GM, Sordo, R, Tanga, P, Thévenin, F, Gracia-Abril, G, Portell, J, Teyssier, D, Altmann, M, Andrae, R, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Brugaletta, E, Burgess, PW, Busso, G, Carry, B, Cellino, A, Cheek, N, Clementini, G, Damerdji, Y, Davidson, M, Delchambre, L, Dell'Oro, A, Fernández-Hernández, J, Galluccio, L, Garciá-Lario, P, Garcia-Reinaldos, M, González-Núñez, J, Gosset, E, Haigron, R, Halbwachs, JL, Hambly, NC, Harrison, DL, Hatzidimitriou, D, Heiter, U, Hernández, J, Hestroffer, D, Hodgkin, ST, Holl, B, Janßen, K, Jevardat De Fombelle, G, Jordan, S, Krone-Martins, A, Lanzafame, AC, Löffler, W, Lorca, A, Manteiga, M, Evans, Dafydd [0000-0002-6685-5998], Walton, Nicholas [0000-0003-3983-8778], van Leeuwen, Floor [0000-0003-1781-4441], Harrison, Diana [0000-0001-8687-6588], and Apollo - University of Cambridge Repository
Subjects: techniques: photometric, proper motions, parallaxes, astrometry, errata, addenda, catalogs
Abstract: We present the early installment of the third Gaia data release, Gaia EDR3, consisting of astrometry and photometry for 1.8 billion sources brighter than magnitude 21, complemented with the list of radial velocities from Gaia DR2. Gaia EDR3 contains celestial positions and the apparent brightness in G for approximately 1.8 billion sources. For 1.5 billion of those sources, parallaxes, proper motions, and the (G_BP-G_RP) colour are also available. The passbands for G, G_BP, and G_RP are provided as part of the release. For ease of use, the 7 million radial velocities from Gaia DR2 are included in this release, after the removal of a small number of spurious values. New radial velocities will appear as part of Gaia DR3. Finally, Gaia EDR3 represents an updated materialisation of the celestial reference frame (CRF) in the optical, the Gaia-CRF3, which is based solely on extragalactic sources. The creation of the source list for Gaia EDR3 includes enhancements that make it more robust with respect to high proper motion stars, and the disturbing effects of spurious and partially resolved sources. The source list is largely the same as that for Gaia DR2, but it does feature new sources and there are some notable changes. The source list will not change for Gaia DR3. Gaia EDR3 represents a significant advance over Gaia DR2, with parallax precisions increased by 30 percent, proper motion precisions increased by a factor of 2, and the systematic errors in the astrometry suppressed by 30--40 percent for the parallaxes and by a factor ~2.5 for the proper motions. The photometry also features increased precision, but above all much better homogeneity across colour, magnitude, and celestial position. A single passband for G, G_BP, and G_RP is valid over the entire magnitude and colour range, with no systematics above the 1 percent level.
Published: 2021
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31. Gaia Early Data Release 3: Gaia photometric science alerts

Author: Hodgkin, ST, Harrison, DL, Breedt, E, Wevers, T, Rixon, G, Delgado, A, Yoldas, A, Kostrzewa-Rutkowska, Z, Wyrzykowski, L, Van Leeuwen, M, Blagorodnova, N, Campbell, H, Eappachen, D, Fraser, M, Ihanec, N, Koposov, SE, Kruszyńska, K, Marton, G, Rybicki, KA, Brown, AGA, Burgess, PW, Busso, G, Cowell, S, De Angeli, F, Diener, C, Evans, DW, Gilmore, G, Holland, G, Jonker, PG, Van Leeuwen, F, Mignard, F, Osborne, PJ, Portell, J, Prusti, T, Richards, PJ, Riello, M, Seabroke, GM, Walton, NA, Ábrahám, P, Altavilla, G, Baker, SG, Bastian, U, O'Brien, P, De Bruijne, J, Butterley, T, Carrasco, JM, Castañeda, J, Clark, JS, Clementini, G, Copperwheat, CM, Cropper, M, Damljanovic, G, Davidson, M, Davis, CJ, Dennefeld, M, Dhillon, VS, Dolding, C, Dominik, M, Esquej, P, Eyer, L, Fabricius, C, Fridman, M, Froebrich, D, Garralda, N, Gomboc, A, González-Vidal, JJ, Guerra, R, Hambly, NC, Hardy, LK, Holl, B, Hourihane, A, Japelj, J, Kann, DA, Kiss, C, Knigge, C, Kolb, U, Komossa, S, Kóspál, Kovács, G, Kun, M, Leto, G, Lewis, F, Littlefair, SP, Mahabal, AA, Mundell, CG, Nagy, Z, Padeletti, D, Palaversa, L, Pigulski, A, Pretorius, ML, Van Reeven, W, Ribeiro, VARM, Roelens, M, Rowell, N, Schartel, N, Scholz, A, Schwope, A, Sipocz, BM, Smartt, SJ, Smith, MD, Hodgkin, Simon [0000-0002-5470-3962], Harrison, Diana [0000-0001-8687-6588], Evans, Dafydd [0000-0002-6685-5998], Gilmore, Gerard [0000-0003-4632-0213], van Leeuwen, Floor [0000-0003-1781-4441], Riello, Marco [0000-0002-3134-0935], Walton, Nicholas [0000-0003-3983-8778], and Apollo - University of Cambridge Repository
Subjects: stars: variables: general, surveys, supernovae: general, quasars: general
Abstract: Since July 2014, the Gaia mission has been engaged in a high-spatial-resolution, time-resolved, precise, accurate astrometric, and photometric survey of the entire sky. Aims: We present the Gaia Science Alerts project, which has been in operation since 1 June 2016. We describe the system which has been developed to enable the discovery and publication of transient photometric events as seen by Gaia. Methods: We outline the data handling, timings, and performances, and we describe the transient detection algorithms and filtering procedures needed to manage the high false alarm rate. We identify two classes of events: (1) sources which are new to Gaia and (2) Gaia sources which have undergone a significant brightening or fading. Validation of the Gaia transit astrometry and photometry was performed, followed by testing of the source environment to minimise contamination from Solar System objects, bright stars, and fainter near-neighbours. Results: We show that the Gaia Science Alerts project suffers from very low contamination, that is there are very few false-positives. We find that the external completeness for supernovae, $C_E=0.46$, is dominated by the Gaia scanning law and the requirement of detections from both fields-of-view. Where we have two or more scans the internal completeness is $C_I=0.79$ at 3 arcsec or larger from the centres of galaxies, but it drops closer in, especially within 1 arcsec. Conclusions: The per-transit photometry for Gaia transients is precise to 1 per cent at $G=13$, and 3 per cent at $G=19$. The per-transit astrometry is accurate to 55 milliarcseconds when compared to Gaia DR2. The Gaia Science Alerts project is one of the most homogeneous and productive transient surveys in operation, and it is the only survey which covers the whole sky at high spatial resolution (subarcsecond), including the Galactic plane and bulge., This work has made use of data from the European Space Agency (ESA) mission \gaia\ (\url{https://www.cosmos.esa.int/gaia}), processed by the \gaia\ Data Processing and Analysis Consortium (DPAC, \url{https://www.cosmos.esa.int/web/gaia/dpac/consortium}). Funding for the DPAC has been provided by national institutions, in particular the institutions participating in the \gaia\ Multilateral Agreement. Further details of funding authorities and individuals contributing to the success of the mission is shown at \url{https://gea.esac.esa.int/archive/documentation/GEDR3/Miscellaneous/sec_acknowl/}. We thank the United Kingdom Particle Physics and Astronomy Research Council (PPARC), the United Kingdom Science and Technology Facilities Council (STFC), and the United Kingdom Space Agency (UKSA) through the following grants to the University of Bristol, the University of Cambridge, the University of Edinburgh, the University of Leicester, the Mullard Space Sciences Laboratory of University College London, and the United Kingdom Rutherford Appleton Laboratory (RAL): PP/D006511/1, PP/D006546/1, PP/D006570/1, ST/I000852/1, ST/J005045/1, ST/K00056X/1, ST/K000209/1, ST/K000756/1, ST/L006561/1, ST/N000595/1, ST/S000623/1, ST/N000641/1, ST/N000978/1, ST/N001117/1, ST/S000089/1, ST/S000976/1, ST/S001123/1, ST/S001948/1, ST/S002103/1, and ST/V000969/1. This paper made use of the Whole Sky Database (WSDB) created by Sergey Koposov and maintained at the Institute of Astronomy, Cambridge with financial support from the Science and Technology Facilities Council (STFC) and the European Research Council (ERC). We thank the William Herschel and Isaac Newton Telescopes on the Roque de los Muchachos Observatory, La Palma, Spain, as well as the Optical Infrared Coordination Network for Astronomy (OPTICON) for their support of this project through telescope time, especially during the commissioning and verification phases. We thank the Copernico 1.82m telescope (Mt. Ekar, Asiago Italy) operated by INAF Padova for supporting the project through telescope time (under the Large Programme Tomasella-SNe) during the verification phases. We acknowledge observations taken as part of the PESSTO project collected at the European Organisation for Astronomical Research in the Southern Hemisphere under ESO programme 199.D-0143. Authors at the ICCUB were supported by the Spanish Ministry of Science, Innovation and University (MICIU/FEDER, UE) through grant RTI2018-095076-B-C21, and the Institute of Cosmos Sciences University of Barcelona (ICCUB, Unidad de Excelencia ’Mar\'{\i}a de Maeztu’) through grant CEX2019-000918-M. This work is supported by Polish NCN grants: Daina No. 2017/27/L/ST9/03221, Harmonia No. 2018/30/M/ST9/00311, Preludium No. 2017/25/N/ST9/01253 and MNiSW grant DIR/WK/2018/12 as well as the European Commission's Horizon2020 OPTICON grant No. 730890. The Authors would like to thank the Warsaw University OGLE project for their continuous support in this work. AB acknowledges financial support from the Netherlands Research School for Astronomy (NOVA). AG acknowledges the financial support from the Slovenian Research Agency (grants P1-0031, I0-0033, J1-8136, J1-2460). AH was funded in part by the Leverhulme Trust through grant RPG-2012-541 and by the European Research Council grant 320360. AP acknowledges support from the NCN grant No.~2016/21/B/ST9/01126. CM acknowledges support from Jim and Hiroko Sherwin. DAK acknowledges support from the Spanish research projects AYA 2014-58381-P, AYA2017-89384-P, from Juan de la Cierva Incorporaci\'on fellowship IJCI-2015-26153, and from Spanish National Research Project RTI2018-098104-J-I00 (GRBPhot). EB and STH are funded by the Science and Technology Facilities Council grant ST/S000623/1. TW was funded in part by European Research Council grant 320360 and by European Commission grant 730980. GC acknowledges the Agenzia Spaziale Italiana (ASI) for its continuing support through contract 2018-24-HH.0 to the Italian Istituto Nazionale di Astrofisica (INAF). GD acknowledges the observing grant support from the Institute of Astronomy and Rozhen NAO BAS through the bilateral joint research project "Gaia Celestial Reference Frame (CRF) and fast variable astronomical objects" (during 2020-2022, leader is G.Damljanovic), and support by the Ministry of Education, Science and Technological Development of the Republic of Serbia (contract No 451-03-68/2020-14/200002). G. Marton acknowledges support from the EC Horizon 2020 project OPTICON (730890) and the ESA PRODEX contract nr. 4000129910. MF is supported by a Royal Society - Science Foundation Ireland University Research Fellowship NB acknowledges support from the research programme VENI, with project number 016.192.277, which is (partly) financed by the Netherlands Organisation for Scientific Research (NWO). NI is partially supported by Polish NCN DAINA grant No. 2017/27/L/ST9/03221. PAW acknowledges research funding from the South African National Research Foundation. RWW was funded by the Science and Technology Facilities Council grant ST/P000541/1. V.A.R.M.R.\ acknowledges financial support from Radboud Excellence Initiative, the Funda\c{c}\~{a}o para a Ci\^encia e a Tecnologia (FCT) in the form of an exploratory project of reference IF/00498/2015/CP1302/CT0001, FCT and the Minist\'erio da Ci\^encia, Tecnologia e Ensino Superior (MCTES) through national funds and when applicable co-funded EU funds under the project UIDB/EEA/50008/2020, and supported by Enabling Green E-science for the Square Kilometre Array Research Infrastructure (ENGAGE-SKA), POCI-01-0145-FEDER-022217, and PHOBOS, POCI-01-0145-FEDER-029932, funded by Programa Operacional Competitividade e Internacionaliza\c{c}\~ao (COMPETE 2020) and FCT, Portugal. ZKR acknowledges funding from the Netherlands Research School for Astronomy (NOVA). ZN acknowledges support from the ESA PRODEX contract nr. 4000129910.
Published: 2021
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32. Gaia Early Data Release 3: The Galactic anticentre

Author: Antoja, T, McMillan, PJ, Kordopatis, G, Ramos, P, Helmi, A, Balbinot, E, Cantat-Gaudin, T, Chemin, L, Figueras, F, Jordi, C, Khanna, S, Romero-Gómez, M, Seabroke, GM, Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Babusiaux, C, Biermann, M, Creevey, OL, Evans, DW, Eyer, L, Hutton, A, Jansen, F, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Soubiran, C, Walton, NA, Arenou, F, Bailer-Jones, CAL, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Van Leeuwen, F, Bakker, J, Castañeda, J, De Angeli, F, Ducourant, C, Fabricius, C, Fouesneau, M, Frémat, Y, Guerra, R, Guerrier, A, Guiraud, J, Jean-Antoine Piccolo, A, Masana, E, Messineo, R, Mowlavi, N, Nicolas, C, Nienartowicz, K, Pailler, F, Panuzzo, P, Riclet, F, Roux, W, Sordo, R, Tanga, P, Thévenin, F, Gracia-Abril, G, Portell, J, Teyssier, D, Altmann, M, Andrae, R, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Brugaletta, E, Burgess, PW, Busso, G, Carry, B, Cellino, A, Cheek, N, Clementini, G, Damerdji, Y, Davidson, M, Delchambre, L, Dell'Oro, A, Fernández-Hernández, J, Galluccio, L, García-Lario, P, Garcia-Reinaldos, M, González-Núñez, J, Gosset, E, Haigron, R, Halbwachs, JL, Hambly, NC, Harrison, DL, Hatzidimitriou, D, Heiter, U, Hernández, J, Hestroffer, D, Evans, Dafydd [0000-0002-6685-5998], Walton, Nicholas [0000-0003-3983-8778], van Leeuwen, Floor [0000-0003-1781-4441], Harrison, Diana [0000-0001-8687-6588], and Apollo - University of Cambridge Repository
Subjects: stars: distances, Astrophysics::Cosmology and Extragalactic Astrophysics, Astrophysics::Earth and Planetary Astrophysics, open clusters and associations: individual: Saurer 1, open clusters and associations: individual: Berkeley 29, Galaxy: kinematics and dynamics, Astrophysics::Galaxy Astrophysics, Galaxy: disk, Galaxy: halo
Abstract: We aim to demonstrate the scientific potential of the Gaia Early Data Release 3 (EDR3) for the study of the Milky Way structure and evolution. We used astrometric positions, proper motions, parallaxes, and photometry from EDR3 to select different populations and components and to calculate the distances and velocities in the direction of the anticentre. We explore the disturbances of the current disc, the spatial and kinematical distributions of early accreted versus in-situ stars, the structures in the outer parts of the disc, and the orbits of open clusters Berkeley 29 and Saurer 1. We find that: i) the dynamics of the Galactic disc are very complex with vertical asymmetries, and new correlations, including a bimodality with disc stars with large angular momentum moving vertically upwards from below the plane, and disc stars with slightly lower angular momentum moving preferentially downwards; ii) we resolve the kinematic substructure (diagonal ridges) in the outer parts of the disc for the first time; iii) the red sequence that has been associated with the proto-Galactic disc that was present at the time of the merger with Gaia-Enceladus-Sausage is currently radially concentrated up to around 14 kpc, while the blue sequence that has been associated with debris of the satellite extends beyond that; iv) there are density structures in the outer disc, both above and below the plane, most probably related to Monoceros, the Anticentre Stream, and TriAnd, for which the Gaia data allow an exhaustive selection of candidate member stars and dynamical study; and v) the open clusters Berkeley~29 and Saurer~1, despite being located at large distances from the Galactic centre, are on nearly circular disc-like orbits. We demonstrate how, once again, the Gaia are crucial for our understanding of the different pieces of our Galaxy and their connection to its global structure and history.
Published: 2021

33. Gaia Early Data Release 3: The Gaia Catalogue of Nearby Stars

Author: Smart, RL, Sarro, LM, Rybizki, J, Reylé, C, Robin, AC, Hambly, NC, Abbas, U, Barstow, MA, De Bruijne, JHJ, Bucciarelli, B, Carrasco, JM, Cooper, WJ, Hodgkin, ST, Masana, E, Michalik, D, Sahlmann, J, Sozzetti, A, Brown, AGA, Vallenari, A, Prusti, T, Babusiaux, C, Biermann, M, Creevey, OL, Evans, DW, Eyer, L, Hutton, A, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Soubiran, C, Walton, NA, Arenou, F, Bailer-Jones, CAL, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Van Leeuwen, F, Bakker, J, Castañeda, J, De Angeli, F, Ducourant, C, Fabricius, C, Fouesneau, M, Frémat, Y, Guerra, R, Guerrier, A, Guiraud, J, Jean-Antoine Piccolo, A, Messineo, R, Mowlavi, N, Nicolas, C, Nienartowicz, K, Pailler, F, Panuzzo, P, Riclet, F, Roux, W, Seabroke, GM, Sordo, R, Tanga, P, Thévenin, F, Gracia-Abril, G, Portell, J, Teyssier, D, Altmann, M, Andrae, R, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Brugaletta, E, Burgess, PW, Busso, G, Carry, B, Cellino, A, Cheek, N, Clementini, G, Damerdji, Y, Davidson, M, Delchambre, L, Dell'Oro, A, Fernández-Hernández, J, Galluccio, L, García-Lario, P, Garcia-Reinaldos, M, González-Núñez, J, Gosset, E, Haigron, R, Halbwachs, JL, Harrison, DL, Hatzidimitriou, D, Evans, Dafydd [0000-0002-6685-5998], Walton, Nicholas [0000-0003-3983-8778], van Leeuwen, Floor [0000-0003-1781-4441], Harrison, Diana [0000-0001-8687-6588], and Apollo - University of Cambridge Repository
Subjects: stars: luminosity function, mass function, stars: low-mass, solar neighborhood, astrometry, Hertzsprung-Russell and C-M diagrams, catalogs
Abstract: Aims. We produce a clean and well-characterised catalogue of objects within 100 pc of the Sun from the Gaia Early Data Release 3. We characterise the catalogue through comparisons to the full data release, external catalogues, and simulations. We carry out a first analysis of the science that is possible with this sample to demonstrate its potential and best practices for its use. Methods. Theselection of objects within 100 pc from the full catalogue used selected training sets, machine-learning procedures, astrometric quantities, and solution quality indicators to determine a probability that the astrometric solution is reliable. The training set construction exploited the astrometric data, quality flags, and external photometry. For all candidates we calculated distance posterior probability densities using Bayesian procedures and mock catalogues to define priors. Any object with reliable astrometry and a non-zero probability of being within 100 pc is included in the catalogue. Results. We have produced a catalogue of 331 312 objects that we estimate contains at least 92% of stars of stellar type M9 within 100 pc of the Sun. We estimate that 9% of the stars in this catalogue probably lie outside 100 pc, but when the distance probability function is used, a correct treatment of this contamination is possible. We produced luminosity functions with a high signal-to-noise ratio for the main-sequence stars, giants, and white dwarfs. We examined in detail the Hyades cluster, the white dwarf population, and wide-binary systems and produced candidate lists for all three samples. We detected local manifestations of several streams, superclusters, and halo objects, in which we identified 12 members of Gaia Enceladus. We present the first direct parallaxes of five objects in multiple systems within 10 pc of the Sun. Conclusions. We provide the community with a large, well-characterised catalogue of objects in the solar neighbourhood. This is a primary benchmark for measuring and understanding fundamental parameters and descriptive functions in astronomy.
Published: 2021

34. Summary of the contents and survey properties

Author: Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Babusiaux, C, Bailer-Jones, CAL, Biermann, M, Evans, DW, Eyer, L, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Van Leeuwen, F, Walton, NA, Arenou, F, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Holl, B, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Panuzzo, P, Portell, J, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Audard, M, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Burgess, P, Busso, G, Carry, B, Cellino, A, Clementini, G, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Dell'Oro, A, Ducourant, C, Fernández-Hernández, J, Fouesneau, M, Frémat, Y, Galluccio, L, García-Torres, M, González-Núñez, J, González-Vidal, JJ, Gosset, E, Guy, LP, Halbwachs, JL, Hambly, NC, Harrison, DL, Hernández, J, Hestroffer, D, Hodgkin, ST, Hutton, A, Jasniewicz, G, Jean-Antoine-Piccolo, A, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], Harrison, Diana [0000-0001-8687-6588], Hodgkin, Simon [0000-0002-5470-3962], and Apollo - University of Cambridge Repository
Subjects: stars: variables: general, techniques: radial velocities, minor planets, astrometry, stars: fundamental parameters, catalogs, asteroids: general
Abstract: Context. We present the second Gaia data release, Gaia DR2, consisting of astrometry, photometry, radial velocities, and information on astrophysical parameters and variability, for sources brighter than magnitude 21. In addition epoch astrometry and photometry are provided for a modest sample of minor planets in the solar system. Aims. A summary of the contents of Gaia DR2 is presented, accompanied by a discussion on the differences with respect to Gaia DR1 and an overview of the main limitations which are still present in the survey. Recommendations are made on the responsible use of Gaia DR2 results. Methods. The raw data collected with the Gaia instruments during the first 22 months of the mission have been processed by the Gaia Data Processing and Analysis Consortium (DPAC) and turned into this second data release, which represents a major advance with respect to Gaia DR1 in terms of completeness, performance, and richness of the data products. Results. Gaia DR2 contains celestial positions and the apparent brightness in G for approximately 1.7 billion sources. For 1.3 billion of those sources, parallaxes and proper motions are in addition available. The sample of sources for which variability information is provided is expanded to 0.5 million stars. This data release contains four new elements: broad-band colour information in the form of the apparent brightness in the GBP(330-680 nm) and GRP(630-1050 nm) bands is available for 1.4 billion sources; median radial velocities for some 7 million sources are presented; for between 77 and 161 million sources estimates are provided of the stellar effective temperature, extinction, reddening, and radius and luminosity; and for a pre-selected list of 14 000 minor planets in the solar system epoch astrometry and photometry are presented. Finally, Gaia DR2 also represents a new materialisation of the celestial reference frame in the optical, the Gaia-CRF2, which is the first optical reference frame based solely on extragalactic sources. There are notable changes in the photometric system and the catalogue source list with respect to Gaia DR1, and we stress the need to consider the two data releases as independent. Conclusions. Gaia DR2 represents a major achievement for the Gaia mission, delivering on the long standing promise to provide parallaxes and proper motions for over 1 billion stars, and representing a first step in the availability of complementary radial velocity and source astrophysical information for a sample of stars in the Gaia survey which covers a very substantial fraction of the volume of our galaxy.
Published: 2020

35. Gaia Early Data Release 3: Photometric content and validation

Author: G. Giuffrida, F. De Angeli, Carla Cacciari, G. Busso, Simon Hodgkin, S. Ragaini, L. Pulone, Anthony G. A. Brown, Nicholas A. Walton, D. W. Evans, D. L. Harrison, C. Diener, Marco Castellani, G. Holland, C. Fabricius, F. van Leeuwen, Paul W. Burgess, Nicoletta Sanna, M. Weiler, G. Altavilla, Nigel Hambly, S. Cowell, Gerard Gilmore, Michael Davidson, C. Pagani, F. De Luise, P. Osborne, S. Marinoni, A. M. Piersimoni, A. Yoldas, P. Montegriffo, L. Palaversa, Monica Rainer, Nicholas Rowell, Elena Pancino, P. J. Richards, Sebastian L. Hidalgo, Michele Bellazzini, Carme Jordi, J. M. Carrasco, M. Riello, Martin A. Barstow, Croatian Science Foundation, Agenzia Spaziale Italiana, Istituto Nazionale di Astrofisica, Ministerio de Ciencia, Innovación y Universidades (España), Particle Physics and Astronomy Research Council (UK), University of Bristol, UK Space Agency, University of Cambridge, University of Edinburgh, University of Leicester, University College London, Riello, Marco [0000-0002-3134-0935], Evans, Dafydd [0000-0002-6685-5998], Harrison, Diana [0000-0001-8687-6588], van Leeuwen, Floor [0000-0003-1781-4441], Gilmore, Gerard [0000-0003-4632-0213], Walton, Nicholas [0000-0003-3983-8778], and Apollo - University of Cambridge Repository
Subjects: FOS: Physical sciences, Context (language use), Astrophysics, Surveys, 7. Clean energy, 01 natural sciences, Instrumentation: photometers, Standard deviation, law.invention, Photometry (optics), law, 0103 physical sciences, Calibration, General, Galaxy: general, 010303 astronomy & astrophysics, Instrumentation, Instrumentation and Methods for Astrophysics (astro-ph.IM), general [Galaxy], Physics, Photometers, 010308 nuclear & particles physics, photometric [Techniques], Astronomy and Astrophysics, Astrometry, Photometer, Techniques, catalogs, surveys, instrumentation: photometers, techniques: photometric, Galaxy, photometers [Instrumentation], 13. Climate action, Space and Planetary Science, Magnitude (astronomy), Instrumentation and Methods for Astrophysics, Satellite, Catalogs, Astrophysics - Instrumentation and Methods for Astrophysics, Techniques: photometric, astro-ph.IM
Abstract: Riello, M., et al., [Context] Gaia Early Data Release 3 (Gaia EDR3) contains astrometry and photometry results for about 1.8 billion sources based on observations collected by the European Space Agency Gaia satellite during the first 34 months of its operational phase. [Aims] In this paper, we focus on the photometric content, describing the input data, the algorithms, the processing, and the validation of the results. Particular attention is given to the quality of the data and to a number of features that users may need to take into account to make the best use of the Gaia EDR3 catalogue. [Methods] The processing broadly followed the same procedure as for Gaia DR2, but with significant improvements in several aspects of the blue and red photometer (BP and RP) preprocessing and in the photometric calibration process. In particular, the treatment of the BP and RP background has been updated to include a better estimation of the local background, and the detection of crowding effects has been used to exclude affected data from the calibrations. The photometric calibration models have also been updated to account for flux loss over the whole magnitude range. Significant improvements in the modelling and calibration of the Gaia point and line spread functions have also helped to reduce a number of instrumental effects that were still present in DR2. Results. Gaia EDR3 contains 1.806 billion sources with G-band photometry and 1.540 billion sources with GBP and GRP photometry. The median uncertainty in the G-band photometry, as measured from the standard deviation of the internally calibrated mean photometry for a given source, is 0.2 mmag at magnitude G = 10-14, 0.8 mmag at G ≈ 17, and 2.6 mmag at G ≈ 19. The significant magnitude term found in the Gaia DR2 photometry is no longer visible, and overall there are no trends larger than 1 mmag mag-1. Using one passband over the whole colour and magnitude range leaves no systematics above the 1% level in magnitude in any of the bands, and a larger systematic is present for a very small sample of bright and blue sources. A detailed description of the residual systematic effects is provided. Overall the quality of the calibrated mean photometry in Gaia EDR3 is superior with respect to DR2 for all bands., The Gaia photometric data processing has been financially supported by (in alphabetical order by country): the Tenure Track Pilot Programme of the Croatian Science Foundation and the Ecole Polytechnique Fédérale de Lausanne and the Project TTP-2018-07-1171 Mining the Variable Sky, with funds of the Croatian-Swiss Research Programme; the Agenzia Spaziale Italiana (ASI) through contracts I/037/08/0, I/058/10/0, 2014-025-R.0, 2014-025-R.1.2015 and 2018-24-HH.0 to the Italian Istituto Nazionale di Astrofisica (INAF), and INAF; the Spanish Ministry of Science, Innovation and University (MICIU/FEDER, UE) through grants RTI2018-095076-B-C21, ESP2016-80079-C2-1-R, and the Institute of Cosmos Sciences University of Barcelona (ICCUB, Unidad de Excelencia “María de Maeztu”) through grants MDM-2014-0369 and CEX2019-000918-M; the United Kingdom Particle Physics and Astronomy Research Council (PPARC), the United Kingdom Science and Technology Facilities Council (STFC), and the United Kingdom Space Agency (UKSA) through the following grants to the University of Bristol, the University of Cambridge, the University of Edinburgh, the University of Leicester, the Mullard Space Sciences Laboratory of University College London, and the United Kingdom Rutherford Appleton Laboratory (RAL): PP/D006511/1, PP/D006546/1, PP/D006570/1, ST/I000852/1, ST/J005045/1, ST/K00056X/1, ST/K000209/1, ST/K000756/1, ST/L006561/1, ST/N000595/1, ST/N000641/1, ST/N000978/1, ST/N001117/1, ST/S000089/1, ST/S000976/1, ST/S001123/1, ST/S001948/1, ST/S002103/1, and ST/V000969/1.
Published: 2020
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36. AL wings extrapolation for XP crowding evaluation and decontamination from nearby sources

Author: Hidalgo, Sebastian L., PIERSIMONI, Anna Marina, DE LUISE, Fiore, ITA, Evans,Dafydd W., and Lattanzi, Mario G.
Abstract: Nota tecnica interna alla partecipazione alla missione ESA/Gaia, soggetta ad embargo We present the analysis done to find the way to reconstruct the wings of contaminating sources in the AL direction as a step in the crowding evaluation and decontamination process. The final aim is to estimate if any contamination in the XP windows is present from nearby sources and computing the spurious flux contributed to the contaminated transit.
Published: 2020

37. Electromagnetic counterparts to gravitational wave events from Gaia

Author: Peter G. Jonker, M. Riello, Sergey E. Koposov, D. W. Evans, F. De Angeli, M. van Leeuwen, Łukasz Wyrzykowski, P. Burgess, P. Osborne, Thomas Wevers, Z. Kostrzewa-Rutkowska, D. Eappachen, Guy Rixon, A. Delgado, A. Yoldas, D. L. Harrison, Elmé Breedt, Simon Hodgkin, Unidad de Excelencia Científica María de Maeztu Centro de Astrobiología del Instituto Nacional de Técnica Aeroespacial y CSIC, MDM-2017-0737, Koposov, S. E. [0000-0003-2644-135X], Harrison, D. [0000-0001-8687-6588], Wyrzykowski, L. [0000-0002-9658-6151], Koposov, S. [0000-0003-2644-135X], Breedt, E. [0000-0001-6180-3438], European Research Council (ERC), National Science Centre, Poland (NCN), European Commission (EC), National Aeronautics and Space Administration (NASA), Polish NCN HARMONIA, 2018/30/M/ST9/00311, European Commission Joint Research Centre, 730980, European Cooperation in Science and Technology (COST), CA18104, National Aeronautics & Space Administration (NASA), NNX08AR22G, National Science Foundation (NSF), AST-1238877, Harrison, Diana [0000-0001-8687-6588], Evans, Dafydd [0000-0002-6685-5998], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: transients, Astronomy, media_common.quotation_subject, FOS: Physical sciences, Astrophysics::Cosmology and Extragalactic Astrophysics, Surveys, Compact star, 01 natural sciences, 7. Clean energy, Gravitational waves, Transients, General Relativity and Quantum Cosmology, surveys, 0103 physical sciences, observational [Methods], High Energy Physics, 010306 general physics, 010303 astronomy & astrophysics, Instrumentation and Methods for Astrophysics (astro-ph.IM), Astrophysics::Galaxy Astrophysics, media_common, astro-ph.HE, Physics, High Energy Astrophysical Phenomena (astro-ph.HE), Gravitational wave, Detector, Astrophysics::Instrumentation and Methods for Astrophysics, Astronomy and Astrophysics, Methods observational, LIGO, gravitational waves, Space and Planetary Science, Sky, methods: observational, Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - High Energy Astrophysical Phenomena, astro-ph.IM
Abstract: The recent discoveries of gravitational wave events and in one case also its electromagnetic (EM) counterpart allow us to study the Universe in a novel way. The increased sensitivity of the LIGO and Virgo detectors has opened the possibility for regular detections of EM transient events from mergers of stellar remnants. Gravitational wave sources are expected to have sky localisation up to a few hundred square degrees, thus Gaia as an all-sky multi-epoch photometric survey has the potential to be a good tool to search for the EM counterparts. In this paper we study the possibility of detecting EM counterparts to gravitational wave sources using the Gaia Science Alerts system. We develop an extension to current used algorithms to find transients and test its capabilities in discovering candidate transients on a sample of events from the observation periods O1 and O2 of LIGO and Virgo. For the gravitational wave events from the current run O3 we expect that about 16 (25) per cent should fall in sky regions observed by Gaia 7 (10) days after gravitational wave. The new algorithm will provide about 10 candidates per day from the whole sky., Comment: MNRAS accepted, revised version with corrections from the erratum
Published: 2020
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38. Gaia Data Release 1: Summary of the astrometric, photometric, and survey properties

Author: Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Mignard, F, Drimmel, R, Babusiaux, C, Bailer-Jones, CAL, Bastian, U, Biermann, M, Evans, DW, Eyer, L, Jansen, F, Jordi, C, Katz, D, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, O'Mullane, W, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Valette, V, Van Leeuwen, F, Walton, NA, Aerts, C, Arenou, F, Cropper, M, Høg, E, Lattanzi, MG, Grebel, EK, Holland, AD, Huc, C, Passot, X, Perryman, M, Bramante, L, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Hernández, J, Jean-Antoine-Piccolo, A, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Ordóñez-Blanco, D, Panuzzo, P, Portell, J, Richards, PJ, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Torra, J, Els, SG, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Lock, T, Mercier, E, Altmann, M, Andrae, R, Astraatmadja, TL, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Busso, G, Carry, B, Cellino, A, Clementini, G, Cowell, S, Creevey, O, Cuypers, J, Davidson, M, De Ridder, J, De Torres, A, Delchambre, L, Dell'Oro, A, Ducourant, C, Frémat, Y, García-Torres, M, Gosset, E, Halbwachs, JL, Hambly, NC, Harrison, DL, Hauser, M, Hestroffer, D, Hodgkin, ST, Huckle, HE, Hutton, A, Jasniewicz, G, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], Harrison, Diana [0000-0001-8687-6588], Hodgkin, Simon [0000-0002-5470-3962], and Apollo - University of Cambridge Repository
Subjects: proper motions, surveys, parallaxes, astrometry, catalogs
Abstract: At about 1000 days after the launch of Gaia we present the first Gaia data release, Gaia DR1, consisting of astrometry and photometry for over 1 billion sources brighter than magnitude 20.7. We summarize Gaia DR1 and provide illustrations of the scientific quality of the data, followed by a discussion of the limitations due to the preliminary nature of this release. Gaia DR1 consists of: a primary astrometric data set which contains the positions, parallaxes, and mean proper motions for about 2 million of the brightest stars in common with the Hipparcos and Tycho-2 catalogues and a secondary astrometric data set containing the positions for an additional 1.1 billion sources. The second component is the photometric data set,consisting of mean G-band magnitudes for all sources. The G-band light curves and the characteristics of ~3000 Cepheid and RR Lyrae stars, observed at high cadence around the south ecliptic pole, form the third component. For the primary astrometric data set the typical uncertainty is about 0.3 mas for the positions and parallaxes, and about 1 mas/yr for the proper motions. A systematic component of ~0.3 mas should be added to the parallax uncertainties. For the subset of ~94000 Hipparcos stars in the primary data set, the proper motions are much more precise at about 0.06 mas/yr. For the secondary astrometric data set, the typical uncertainty of the positions is ~10 mas. The median uncertainties on the mean G-band magnitudes range from the mmag level to ~0.03 mag over the magnitude range 5 to 20.7. Gaia DR1 represents a major advance in the mapping of the heavens and the availability of basic stellar data that underpin observational astrophysics. Nevertheless, the very preliminary nature of this first Gaia data release does lead to a number of important limitations to the data quality which should be carefully considered before drawing conclusions from the data.
Published: 2019
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39. Gaia Data Release 2: Variable stars in the colour-absolute magnitude diagram

Author: Eyer, L, Rimoldini, L, Audard, M, Anderson, RI, Nienartowicz, K, Glass, F, Marchal, O, Grenon, M, Mowlavi, N, Holl, B, Clementini, G, Aerts, C, Mazeh, T, Evans, DW, Szabados, L, Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Babusiaux, C, Bailer-Jones, CAL, Biermann, M, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Van Leeuwen, F, Walton, NA, Arenou, F, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Masana, E, Messineo, R, Panuzzo, P, Portell, J, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Burgess, P, Busso, G, Carry, B, Cellino, A, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Dell'Oro, A, Ducourant, C, Fernández-Hernández, J, Fouesneau, M, Frémat, Y, Galluccio, L, García-Torres, M, González-Núñez, J, González-Vidal, JJ, Gosset, E, Guy, LP, Halbwachs, JL, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: stars: variables: general, surveys, Astrophysics::Instrumentation and Methods for Astrophysics, Astrophysics::Solar and Stellar Astrophysics, binaries: eclipsing, Astrophysics::Cosmology and Extragalactic Astrophysics, Astrophysics::Earth and Planetary Astrophysics, stars: oscillations, stars: general, methods: data analysis, Astrophysics::Galaxy Astrophysics
Abstract: The ESA Gaia mission provides a unique time-domain survey for more than 1.6 billion sources with G â‰² 21 mag. Aims. We showcase stellar variability in the Galactic colour-absolute magnitude diagram (CaMD). We focus on pulsating, eruptive, and cataclysmic variables, as well as on stars that exhibit variability that is due to rotation and eclipses. Methods. We describe the locations of variable star classes, variable object fractions, and typical variability amplitudes throughout the CaMD and show how variability-related changes in colour and brightness induce "motions". To do this, we use 22 months of calibrated photometric, spectro-photometric, and astrometric Gaia data of stars with a significant parallax. To ensure that a large variety of variable star classes populate the CaMD, we crossmatched Gaia sources with known variable stars. We also used the statistics and variability detection modules of the Gaia variability pipeline. Corrections for interstellar extinction are not implemented in this article. Results. Gaia enables the first investigation of Galactic variable star populations in the CaMD on a similar, if not larger, scale as was previously done in the Magellanic Clouds. Although the observed colours are not corrected for reddening, distinct regions are visible in which variable stars occur. We determine variable star fractions to within the current detection thresholds of Gaia. Finally, we report the most complete description of variability-induced motion within the CaMD to date. Conclusions. Gaia enables novel insights into variability phenomena for an unprecedented number of stars, which will benefit the understanding of stellar astrophysics. The CaMD of Galactic variable stars provides crucial information on physical origins of variability in a way that has previously only been accessible for Galactic star clusters or external galaxies. Future Gaia data releases will enable significant improvements over this preview by providing longer time series, more accurate astrometry, and additional data types (time series BP and RP spectra, RVS spectra, and radial velocities), all for much larger samples of stars.
Published: 2019

40. The Gaia mission

Author: Prusti, T, De Bruijne, JHJ, Brown, AGA, Vallenari, A, Babusiaux, C, Bailer-Jones, CAL, Bastian, U, Biermann, M, Evans, DW, Eyer, L, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Milligan, DJ, Panem, C, Poinsignon, V, Pourbaix, D, Randich, S, Sarri, G, Sartoretti, P, Siddiqui, HI, Soubiran, C, Valette, V, Van Leeuwen, F, Walton, NA, Aerts, C, Arenou, F, Cropper, M, Drimmel, R, Høg, E, Katz, D, Lattanzi, MG, O'Mullane, W, Grebel, EK, Holland, AD, Huc, C, Passot, X, Bramante, L, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Hernández, J, Jean-Antoine-Piccolo, A, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Ordóñez-Blanco, D, Panuzzo, P, Portell, J, Richards, PJ, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Torra, J, Els, SG, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Lock, T, Mercier, E, Altmann, M, Andrae, R, Astraatmadja, TL, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Busso, G, Carry, B, Cellino, A, Clementini, G, Cowell, S, Creevey, O, Cuypers, J, Davidson, M, De Ridder, J, De Torres, A, Delchambre, L, Dell'Oro, A, Ducourant, C, Frémat, Y, García-Torres, M, Gosset, E, Halbwachs, JL, Hambly, NC, Harrison, DL, Hauser, M, Hestroffer, D, Hodgkin, ST, Huckle, HE, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], Harrison, Diana [0000-0001-8687-6588], Hodgkin, Simon [0000-0002-5470-3962], and Apollo - University of Cambridge Repository
Subjects: proper motions, parallaxes, astrometry, telescopes, space vehicles: instruments, Galaxy: structure
Abstract: Gaia is a cornerstone mission in the science programme of the European Space Agency (ESA). The spacecraft construction was approved in 2006, following a study in which the original interferometric concept was changed to a direct-imaging approach. Both the spacecraft and the payload were built by European industry. The involvement of the scientific community focusses on data processing for which the international Gaia Data Processing and Analysis Consortium (DPAC) was selected in 2007. Gaia was launched on 19 December 2013 and arrived at its operating point, the second Lagrange point of the Sun-Earth-Moon system, a few weeks later. The commissioning of the spacecraft and payload was completed on 19 July 2014. The nominal five-year mission started with four weeks of special, ecliptic-pole scanning and subsequently transferred into full-sky scanning mode. We recall the scientific goals of Gaia and give a description of the as-built spacecraft that is currently (mid-2016) being operated to achieve these goals. We pay special attention to the payload module, the performance of which is closely related to the scientific performance of the mission. We provide a summary of the commissioning activities and findings, followed by a description of the routine operational mode. We summarise scientific performance estimates on the basis of in-orbit operations. Several intermediate Gaia data releases are planned and the data can be retrieved from the Gaia Archive, which is available through the Gaia home page at http://www.cosmos.esa.int/gaia.
Published: 2018
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41. Gaia Data Release 2: processing of the photometric data

Author: Michael Davidson, D. W. Evans, Paul W. Burgess, C. Fabricius, Nigel Hambly, P. Osborne, P. Montegriffo, G. Holland, F. van Leeuwen, A. Kewley, Carme Jordi, G. Busso, F. De Angeli, Carla Cacciari, J. M. Carrasco, M. Riello, Riello, Marco [0000-0002-3134-0935], Evans, Dafydd [0000-0002-6685-5998], Apollo - University of Cambridge Repository, and Universitat de Barcelona
Subjects: Accuracy and precision, Real-time computing, Photometric system, FOS: Physical sciences, Astrophysics, 01 natural sciences, Catàlegs d'estels, law.invention, Photometry (optics), Star catalogs, photometric, law, Methods: data analysis, 0103 physical sciences, Calibration, Instruments astronòmics, Techniques, 010303 astronomy & astrophysics, Instrumentation and Methods for Astrophysics (astro-ph.IM), Physics, Downtime, 010308 nuclear & particles physics, Astronomical instruments, Astronomy and Astrophysics, Space vehicles, Photometer, Data processing, Space and Planetary Science, Data quality, Scalability, instruments, photometers, Catalogs, Astrophysics - Instrumentation and Methods for Astrophysics, Instrumentation, Processament de dades
Abstract: Context. The second Gaia data release is based on 22 months of mission data with an average of 0.9 billion individual CCD observations per day. A data volume of this size and granularity requires a robust and reliable but still flexible system to achieve the demanding accuracy and precision constraints that Gaia is capable of delivering. Aims. We aim to describe the input data, the treatment of blue photometer/red photometer (BP/RP) low-resolution spectra required to produce the integrated GBP and GRP fluxes, the process used to establish the internal Gaia photometric system, and finally, the generation of the mean source photometry from the calibrated epoch data for Gaia DR2. Methods. The internal Gaia photometric system was initialised using an iterative process that is solely based on Gaia data. A set of calibrations was derived for the entire Gaia DR2 baseline and then used to produce the final mean source photometry. The photometric catalogue contains 2.5 billion sources comprised of three different grades depending on the availability of colour information and the procedure used to calibrate them: 1.5 billion gold, 144 million silver, and 0.9 billion bronze. These figures reflect the results of the photometric processing; the content of the data release will be different due to the validation and data quality filters applied during the catalogue preparation. The photometric processing pipeline, PhotPipe, implements all the processing and calibration workflows in terms of Map/Reduce jobs based on the Hadoop platform. This is the first example of a processing system for a large astrophysical survey project to make use of these technologies. Results. The improvements in the generation of the integrated G–band fluxes, in the attitude modelling, in the cross-matching, and and in the identification of spurious detections led to a much cleaner input stream for the photometric processing. This, combined with the improvements in the definition of the internal photometric system and calibration flow, produced high-quality photometry. Hadoop proved to be an excellent platform choice for the implementation of PhotPipe in terms of overall performance, scalability, downtime, and manpower required for operations and maintenance.
Published: 2018
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42. Gaia Data Release 2: Short-timescale variability processing and analysis

Author: O. Marchal, F. De Angeli, M. Riello, Nami Mowlavi, G. Jevardat de Fombelle, D. W. Evans, Marc Audard, I. Lecoeur-Taïbi, Sergi Blanco-Cuaresma, Laurent Eyer, Maroussia Roelens, Thomas Wevers, B. Holl, Lorenzo Rimoldini, Leanne P. Guy, K. Nienartowicz, Evans, Dafydd [0000-0002-6685-5998], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: Astronomy, media_common.quotation_subject, FOS: Physical sciences, Astrophysics, astronomical databases: miscellaneous, 01 natural sciences, law.invention, Photometry (optics), Telescope, techniques: photometric, surveys, law, 0103 physical sciences, Variogram, Instrumentation and Methods for Astrophysics (astro-ph.IM), 010303 astronomy & astrophysics, media_common, Remote sensing, Physics, Data processing, 010308 nuclear & particles physics, Astronomy and Astrophysics, Light curve, methods: data analysis, stars: variables: general, Space and Planetary Science, Sky, ddc:520, Mercator projection, Astrophysics - Instrumentation and Methods for Astrophysics, Data release
Abstract: The Gaia DR2 sample of short-timescale variable candidates results from the investigation of the first 22 months of Gaia photometry for a subsample of sources at the Gaia faint end. For this exercise, we limited ourselves to the case of suspected rapid periodic variability. Our study combines fast-variability detection through variogram analysis, high-frequency search by means of least-squares periodograms, and empirical selection based on the investigation of specific sources seen through the Gaia eyes (e.g. known variables or visually identified objects with peculiar features in their light curves). The progressive definition and validation of this selection criterion also benefited from supplementary ground-based photometric monitoring of a few preliminary candidates, performed at the Flemish Mercator telescope (Canary Islands, Spain) between August and November 2017. We publish a list of 3,018 short-timescale variable candidates, spread throughout the sky, with a false-positive rate up to 10-20% in the Magellanic Clouds, and a more significant but justifiable contamination from longer-period variables between 19% and 50%, depending on the area of the sky. Although its completeness is limited to about 0.05%, this first sample of Gaia short-timescale variables recovers some very interesting known short-period variables, such as post-common envelope binaries or cataclysmic variables, and brings to light some fascinating, newly discovered variable sources. In the perspective of future Gaia data releases, several improvements of the short-timescale variability processing are considered, by enhancing the existing variogram and period-search algorithms or by classifying the identified candidates. Nonetheless, the encouraging outcome of our Gaia DR2 analysis demonstrates the power of this mission for such fast-variability studies, and opens great perspectives for this domain of astrophysics., 18 pages, 19 figures, 2 tables, submitted to Astronomy & Astrophysics and accepted for publication
Published: 2018

43. Gaia Data Release 2: The celestial reference frame (Gaia -CRF2)

Author: Mignard, F, Klioner, SA, Lindegren, L, Hernández, J, Bastian, U, Bombrun, A, Hobbs, D, Lammers, U, Michalik, D, Ramos-Lerate, M, Biermann, M, Fernández-Hernández, J, Geyer, R, Hilger, T, Siddiqui, HI, Steidelmüller, H, Babusiaux, C, Barache, C, Lambert, S, Andrei, AH, Bourda, G, Charlot, P, Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Bailer-Jones, CAL, Evans, DW, Eyer, L, Jansen, F, Jordi, C, Luri, X, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Soubiran, C, Van Leeuwen, F, Walton, NA, Arenou, F, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Holl, B, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Panuzzo, P, Portell, J, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Audard, M, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Burgess, P, Busso, G, Carry, B, Cellino, A, Clementini, G, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Dell'Oro, A, Ducourant, C, Fouesneau, M, Frémat, Y, Galluccio, L, García-Torres, M, González-Núñez, J, González-Vidal, JJ, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: Astrophysics::Instrumentation and Methods for Astrophysics, astrometry, reference systems, Astrophysics::Cosmology and Extragalactic Astrophysics, Astrophysics::Galaxy Astrophysics, catalogs
Abstract: Context. The second release of Gaia data (Gaia DR2) contains the astrometric parameters for more than half a million quasars. This set defines a kinematically non-rotating reference frame in the optical domain. A subset of these quasars have accurate VLBI positions that allow the axes of the reference frame to be aligned with the International Celestial Reference System (ICRF) radio frame. Aims. We describe the astrometric and photometric properties of the quasars that were selected to represent the celestial reference frame of Gaia DR2 (Gaia-CRF2), and to compare the optical and radio positions for sources with accurate VLBI positions. Methods. Descriptive statistics are used to characterise the overall properties of the quasar sample. Residual rotation and orientation errors and large-scale systematics are quantified by means of expansions in vector spherical harmonics. Positional differences are calculated relative to a prototype version of the forthcoming ICRF3. Results. Gaia-CRF2 consists of the positions of a sample of 556 869 sources in Gaia DR2, obtained from a positional cross-match with the ICRF3-prototype and AllWISE AGN catalogues. The sample constitutes a clean, dense, and homogeneous set of extragalactic point sources in the magnitude range G ≈ 16 to 21 mag with accurately known optical positions. The median positional uncertainty is 0.12 mas for G < 18 mag and 0.5 mas at G = mag. Large-scale systematics are estimated to be in the range 20 to 30 μas. The accuracy claims are supported by the parallaxes and proper motions of the quasars in Gaia DR2. The optical positions for a subset of 2820 sources in common with the ICRF3-prototype show very good overall agreement with the radio positions, but several tens of sources have significantly discrepant positions. Conclusions. Based on less than 40% of the data expected from the nominal Gaia mission, Gaia-CRF2 is the first realisation of a non-rotating global optical reference frame that meets the ICRS prescriptions, meaning that it is built only on extragalactic sources. Its accuracy matches the current radio frame of the ICRF, but the density of sources in all parts of the sky is much higher, except along the Galactic equator.
Published: 2018

44. Validation of the BR-RP deblending process

Author: CASTELLANI, Marco, Pulone, Luigi, Giuffrida, Giuliano, DE LUISE, Fiore, PIERSIMONI, Anna Marina, ITA, and Evans, Dafydd W.
Abstract: Nota tecnica interna alla missione ESA/Gaia, soggetta ad embargo This document provides a description of the different approaches to validate the BP- RP deblending process. A neural network approach together with a more traditional one, based upon error minimisation, have been tested and compared. They are both described in this document, together with our considerations about the most reliable procedure, which takes advantages by both methods.
Published: 2018

45. Observational hertzsprung-russell diagrams

Author: Babusiaux, C, Van Leeuwen, F, Barstow, MA, Jordi, C, Vallenari, A, Bossini, D, Bressan, A, Cantat-Gaudin, T, Van Leeuwen, M, Brown, AGA, Prusti, T, De Bruijne, JHJ, Bailer-Jones, CAL, Biermann, M, Evans, DW, Eyer, L, Jansen, F, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Walton, NA, Arenou, F, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Holl, B, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Panuzzo, P, Portell, J, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Audard, M, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Burgess, P, Busso, G, Carry, B, Cellino, A, Clementini, G, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Dell'Oro, A, Ducourant, C, Fernández-Hernández, J, Fouesneau, M, Frémat, Y, Galluccio, L, García-Torres, M, González-Núñez, J, González-Vidal, JJ, Gosset, E, Guy, LP, Halbwachs, JL, Hambly, NC, Harrison, DL, Hernández, J, Hestroffer, D, Hodgkin, ST, Hutton, A, Jasniewicz, G, Jean-Antoine-Piccolo, A, Jordan, S, Korn, AJ, Krone-Martins, A, Lanzafame, AC, Lebzelter, T, van Leeuwen, Floor [0000-0003-1781-4441], Evans, Dafydd [0000-0002-6685-5998], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], Harrison, Diana [0000-0001-8687-6588], Hodgkin, Simon [0000-0002-5470-3962], and Apollo - University of Cambridge Repository
Subjects: solar neighborhood, parallaxes, Astrophysics::Solar and Stellar Astrophysics, Hertzsprung-Russell and C-M diagrams, Astrophysics::Cosmology and Extragalactic Astrophysics, Astrophysics::Earth and Planetary Astrophysics, stars: evolution, Astrophysics::Galaxy Astrophysics
Abstract: We highlight the power of the Gaia DR2 in studying many fine structures of the Hertzsprung-Russell diagram (HRD). Gaia allows us to present many different HRDs, depending in particular on stellar population selections. We do not aim here for completeness in terms of types of stars or stellar evolutionary aspects. Instead, we have chosen several illustrative examples. We describe some of the selections that can be made in Gaia DR2 to highlight the main structures of the Gaia HRDs. We select both field and cluster (open and globular) stars, compare the observations with previous classifications and with stellar evolutionary tracks, and we present variations of the Gaia HRD with age, metallicity, and kinematics. Late stages of stellar evolution such as hot subdwarfs, post-AGB stars, planetary nebulae, and white dwarfs are also analysed, as well as low-mass brown dwarf objects. The Gaia HRDs are unprecedented in both precision and coverage of the various Milky Way stellar populations and stellar evolutionary phases. Many fine structures of the HRDs are presented. The clear split of the white dwarf sequence into hydrogen and helium white dwarfs is presented for the first time in an HRD. The relation between kinematics and the HRD is nicely illustrated. Two different populations in a classical kinematic selection of the halo are unambiguously identified in the HRD. Membership and mean parameters for a selected list of open clusters are provided. They allow drawing very detailed cluster sequences, highlighting fine structures, and providing extremely precise empirical isochrones that will lead to more insight in stellar physics. Gaia DR2 demonstrates the potential of combining precise astrometry and photometry for large samples for studies in stellar evolution and stellar population and opens an entire new area for HRD-based studies.
Published: 2018

46. Mapping the Milky Way disc kinematics

Author: Katz, D, Antoja, T, Romero-Gómez, M, Drimmel, R, Reylé, C, Seabroke, GM, Soubiran, C, Babusiaux, C, Di Matteo, P, Figueras, F, Poggio, E, Robin, AC, Evans, DW, Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Bailer-Jones, CAL, Biermann, M, Eyer, L, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Van Leeuwen, F, Walton, NA, Arenou, F, Bastian, U, Cropper, M, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Holl, B, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Panuzzo, P, Portell, J, Riello, M, Tanga, P, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Audard, M, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Burgess, P, Busso, G, Carry, B, Cellino, A, Clementini, G, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Dell'Oro, A, Ducourant, C, Fernández-Hernández, J, Fouesneau, M, Frémat, Y, Galluccio, L, García-Torres, M, González-Núñez, J, González-Vidal, JJ, Gosset, E, Guy, LP, Halbwachs, JL, Hambly, NC, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: solar neighborhood, Astrophysics::Earth and Planetary Astrophysics, Astrophysics::Cosmology and Extragalactic Astrophysics, Galaxy: kinematics and dynamics, Astrophysics::Galaxy Astrophysics, Galaxy: disk
Abstract: Context. The second Gaia data release (Gaia DR2) contains high-precision positions, parallaxes, and proper motions for 1.3 billion sources as well as line-of-sight velocities for 7.2 million stars brighter than GRVS = 12 mag. Both samples provide a full sky coverage. Aims. To illustrate the potential of Gaia DR2, we provide a first look at the kinematics of the Milky Way disc, within a radius of several kiloparsecs around the Sun. Methods. We benefit for the first time from a sample of 6.4 million F-G-K stars with full 6D phase-space coordinates, precise parallaxes (σω/ω/≤ 20%), and precise Galactic cylindrical velocities (median uncertainties of 0.9-1.4 km s-1and 20% of the stars with uncertainties smaller than 1 km s-1on all three components). From this sample, we extracted a sub-sample of 3.2 million giant stars to map the velocity field of the Galactic disc from ∼5 kpc to ∼13 kpc from the Galactic centre and up to 2 kpc above and below the plane. We also study the distribution of 0.3 million solar neighbourhood stars (r < 200 pc), with median velocity uncertainties of 0.4 km s-1, in velocity space and use the full sample to examine how the over-densities evolve in more distant regions. Results. Gaia DR2 allows us to draw 3D maps of the Galactocentric median velocities and velocity dispersions with unprecedented accuracy, precision, and spatial resolution. The maps show the complexity and richness of the velocity field of the galactic disc. We observe streaming motions in all the components of the velocities as well as patterns in the velocity dispersions. For example, we confirm the previously reported negative and positive galactocentric radial velocity gradients in the inner and outer disc, respectively. Here, we see them as part of a non-axisymmetric kinematic oscillation, and we map its azimuthal and vertical behaviour. We also witness a new global arrangement of stars in the velocity plane of the solar neighbourhood and in distant regions in which stars are organised in thin substructures with the shape of circular arches that are oriented approximately along the horizontal direction in the U - V plane. Moreover, in distant regions, we see variations in the velocity substructures more clearly than ever before, in particular, variations in the velocity of the Hercules stream. Conclusions. Gaia DR2 provides the largest existing full 6D phase-space coordinates catalogue. It also vastly increases the number of available distances and transverse velocities with respect to Gaia DR1. Gaia DR2 offers a great wealth of information on the Milky Way and reveals clear non-axisymmetric kinematic signatures within the Galactic disc, for instance. It is now up to the astronomical community to explore its full potential.
Published: 2018

47. Observations of solar system objects

Author: Spoto, F, Tanga, P, Mignard, F, Berthier, J, Carry, B, Cellino, A, Dell'Oro, A, Hestroffer, D, Muinonen, K, Pauwels, T, Petit, JM, David, P, De Angeli, F, Delbo, M, Frézouls, B, Galluccio, L, Granvik, M, Guiraud, J, Hernández, J, Ordénovic, C, Portell, J, Poujoulet, E, Thuillot, W, Walmsley, G, Brown, AGA, Vallenari, A, Prusti, T, De Bruijne, JHJ, Babusiaux, C, Bailer-Jones, CAL, Biermann, M, Evans, DW, Eyer, L, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Luri, X, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Van Leeuwen, F, Walton, NA, Arenou, F, Bastian, U, Cropper, M, Drimmel, R, Katz, D, Lattanzi, MG, Bakker, J, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, Fabricius, C, Guerra, R, Holl, B, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Panuzzo, P, Riello, M, Seabroke, GM, Thévenin, F, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Teyssier, D, Altmann, M, Andrae, R, Audard, M, Bellas-Velidis, I, Benson, K, Blomme, R, Burgess, P, Busso, G, Clementini, G, Clotet, M, Creevey, O, Davidson, M, De Ridder, J, Delchambre, L, Ducourant, C, Fernández-Hernández, J, Fouesneau, M, Frémat, Y, García-Torres, M, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: astrometry, space vehicles: instruments, minor planets, asteroids: general, methods: data analysis
Abstract: Context. The Gaia spacecraft of the European Space Agency (ESA) has been securing observations of solar system objects (SSOs) since the beginning of its operations. Data Release 2 (DR2) contains the observations of a selected sample of 14,099 SSOs. These asteroids have been already identified and have been numbered by the Minor Planet Center repository. Positions are provided for each Gaia observation at CCD level. As additional information, complementary to astrometry, the apparent brightness of SSOs in the unfiltered G band is also provided for selected observations. Aims. We explain the processing of SSO data, and describe the criteria we used to select the sample published in Gaia DR2. We then explore the data set to assess its quality. Methods. To exploit the main data product for the solar system in Gaia DR2, which is the epoch astrometry of asteroids, it is necessary to take into account the unusual properties of the uncertainty, as the position information is nearly one-dimensional. When this aspect is handled appropriately, an orbit fit can be obtained with post-fit residuals that are overall consistent with the a-priori error model that was used to define individual values of the astrometric uncertainty. The role of both random and systematic errors is described. The distribution of residuals allowed us to identify possible contaminants in the data set (such as stars). Photometry in the G band was compared to computed values from reference asteroid shapes and to the flux registered at the corresponding epochs by the red and blue photometers (RP and BP). Results. The overall astrometric performance is close to the expectations, with an optimal range of brightness G ∼ 12 - 17. In this range, the typical transit-level accuracy is well below 1 mas. For fainter asteroids, the growing photon noise deteriorates the performance. Asteroids brighter than G ∼ 12 are affected by a lower performance of the processing of their signals. The dramatic improvement brought by Gaia DR2 astrometry of SSOs is demonstrated by comparisons to the archive data and by preliminary tests on the detection of subtle non-gravitational effects.
Published: 2018

48. Gaia Data Release 2: Photometric content and validation

Author: P. M. Marrese, A. Delgado, C. Ducourant, P. J. Richards, G. Altavilla, Gerry Gilmore, G. Giuffrida, Łukasz Wyrzykowski, F. De Luise, A. M. Piersimoni, Michael Davidson, M. Riello, C. Diener, Anthony G. A. Brown, D. W. Evans, G. Cocozza, Jordi Portell, S. Marinoni, Marco Castellani, Nicoletta Sanna, A. Kewley, B. Holl, Martin A. Barstow, Michele Bellazzini, N. A. Walton, P. Burgess, P. Osborne, D. Terrett, C. Fabricius, S. Galleti, J. M. Carrasco, Carla Cacciari, Carme Jordi, L. Pulone, Thomas Wevers, D. L. Harrison, Sergey E. Koposov, F. De Angeli, S. Ragaini, G. Busso, Simon Hodgkin, L. Balaguer-Núñez, Paolo Montegriffo, F. van Leeuwen, L. Palaversa, Elena Pancino, CICEnergigune, Nelson Mandela Metropolitan University [Port Elizabeth, South Africa], Institute of Astronomy [Cambridge], University of Cambridge [UK] (CAM), Department of Biomedical, Metabolic and Neural Sciences [Modena], Centre d'études spatiales de la biosphère (CESBIO), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS), INAF - Osservatorio Astronomico di Bologna (OABO), Istituto Nazionale di Astrofisica (INAF), Universitat de Barcelona (UB), Atotech Deutschland GmbH, Atotech, Hospital Israelita Albert Einstein, M2A 2018, Laboratoire d'Astrophysique de Bordeaux [Pessac] (LAB), Université de Bordeaux (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Heckscher-Klinikum, Department of Astrophysics [Nijmegen], Institute for Mathematics, Astrophysics and Particle Physics (IMAPP), Radboud university [Nijmegen]-Radboud university [Nijmegen], Evans, Dafydd [0000-0002-6685-5998], Riello, Marco [0000-0002-3134-0935], Harrison, Diana [0000-0001-8687-6588], Hodgkin, Simon [0000-0002-5470-3962], Gilmore, Gerard [0000-0003-4632-0213], Walton, Nicholas [0000-0003-3983-8778], Apollo - University of Cambridge Repository, and Universitat de Barcelona
Subjects: Astrometria, Astronomy, FOS: Physical sciences, Astrophysics, Surveys, 01 natural sciences, Catàlegs d'estels, catalogs, surveys, instrumentation, photometers, techniques: photometric, galaxies: general, Star catalogs, Photometry (optics), 0103 physical sciences, Instruments astronòmics, 010303 astronomy & astrophysics, Instrumentation and Methods for Astrophysics (astro-ph.IM), Remote sensing, Physics, 010308 nuclear & particles physics, Quality assessment, photometric [Techniques], Astronomical instruments, general [Galaxies], Astronomy and Astrophysics, Astrometry, Galaxies, Galàxies, [SDU.ASTR.IM]Sciences of the Universe [physics]/Astrophysics [astro-ph]/Instrumentation and Methods for Astrophysic [astro-ph.IM], instrumentation: photometers, photometers [Instrumentation], Space and Planetary Science, Content (measure theory), Catalogs, Astrophysics - Instrumentation and Methods for Astrophysics, Data release
Abstract: Aims. We describe the photometric content of the second data release of the Gaia project (Gaia DR2) and its validation along with the quality of the data. Methods. The validation was mainly carried out using an internal analysis of the photometry. External comparisons were also made, but were limited by the precision and systematics that may be present in the external catalogues used. Results. In addition to the photometric quality assessment, we present the best estimates of the three photometric passbands. Various colour-colour transformations are also derived to enable the users to convert between the Gaia and commonly used passbands. Conclusions. The internal analysis of the data shows that the photometric calibrations can reach a precision as low as 2 mmag on individual CCD measurements. Other tests show that systematic effects are present in the data at the 10 mmag level., Comment: This version has corrections to Appendix A. All the SDSS transformations have been corrected. Tables A.1 and A.2 have changed for the SDSS relationships. Three of the subfigures in Figure A.1 have changed. The author list has been expanded
Published: 2018
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49. Gaia Data Release 1: Testing parallaxes with local Cepheids and RR Lyrae stars

Author: Clementini, G, Eyer, L, Ripepi, V, Marconi, M, Muraveva, T, Garofalo, A, Sarro, LM, Palmer, M, Luri, X, Molinaro, R, Rimoldini, L, Szabados, L, Musella, I, Anderson, RI, Prusti, T, De Bruijne, JHJ, Brown, AGA, Vallenari, A, Babusiaux, C, Bailer-Jones, CAL, Bastian, U, Biermann, M, Evans, DW, Jansen, F, Jordi, C, Klioner, SA, Lammers, U, Lindegren, L, Mignard, F, Panem, C, Pourbaix, D, Randich, S, Sartoretti, P, Siddiqui, HI, Soubiran, C, Valette, V, Van Leeuwen, F, Walton, NA, Aerts, C, Arenou, F, Cropper, M, Drimmel, R, Høg, E, Katz, D, Lattanzi, MG, O'Mullane, W, Grebel, EK, Holland, AD, Huc, C, Passot, X, Perryman, M, Bramante, L, Cacciari, C, Castañeda, J, Chaoul, L, Cheek, N, De Angeli, F, Fabricius, C, Guerra, R, Hernández, J, Jean-Antoine-Piccolo, A, Masana, E, Messineo, R, Mowlavi, N, Nienartowicz, K, Ordóñez-Blanco, D, Panuzzo, P, Portell, J, Richards, PJ, Riello, M, Seabroke, GM, Tanga, P, Thévenin, F, Torra, J, Els, SG, Gracia-Abril, G, Comoretto, G, Garcia-Reinaldos, M, Lock, T, Mercier, E, Altmann, M, Andrae, R, Astraatmadja, TL, Bellas-Velidis, I, Benson, K, Berthier, J, Blomme, R, Busso, G, Carry, B, Cellino, A, Cowell, S, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Walton, Nicholas [0000-0003-3983-8778], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: stars: variables: RR Lyrae, parallaxes, stars: distances, astrometry, methods: data analysis, stars: variables: Cepheids
Abstract: Context. Parallaxes for 331 classical Cepheids, 31 Type II Cepheids, and 364 RR Lyrae stars in common between Gaia and the Hipparcos and Tycho-2 catalogues are published in Gaia Data Release 1 (DR1) as part of the Tycho-Gaia Astrometric Solution (TGAS). Aims. In order to test these first parallax measurements of the primary standard candles of the cosmological distance ladder, which involve astrometry collected by Gaia during the initial 14 months of science operation, we compared them with literature estimates and derived new period-luminosity (PL), period-Wesenheit (PW) relations for classical and Type II Cepheids and infrared PL, PL-metallicity (PLZ), and optical luminosity-metallicity (M V -[Fe/H]) relations for the RR Lyrae stars, with zero points based on TGAS. Methods. Classical Cepheids were carefully selected in order to discard known or suspected binary systems. The final sample comprises 102 fundamental mode pulsators with periods ranging from 1.68 to 51.66 days (of which 33 with σ Ω /Ω < 0.5). The Type II Cepheids include a total of 26 W Virginis and BL Herculis stars spanning the period range from 1.16 to 30.00 days (of which only 7 with σ Ω /Ω < 0.5). The RR Lyrae stars include 200 sources with pulsation period ranging from 0.27 to 0.80 days (of which 112 with σ Ω /Ω < 0.5). The new relations were computed using multi-band (V,I,J,K s ) photometry and spectroscopic metal abundances available in the literature, and by applying three alternative approaches: (i) linear least-squares fitting of the absolute magnitudes inferred from direct transformation of the TGAS parallaxes; (ii) adopting astrometry-based luminosities; and (iii) using a Bayesian fitting approach. The last two methods work in parallax space where parallaxes are used directly, thus maintaining symmetrical errors and allowing negative parallaxes to be used. The TGAS-based PL,PW,PLZ, and M V - [Fe/H] relations are discussed by comparing the distance to the Large Magellanic Cloud provided by different types of pulsating stars and alternative fitting methods. Results. Good agreement is found from direct comparison of the parallaxes of RR Lyrae stars for which both TGAS and HST measurements are available. Similarly, very good agreement is found between the TGAS values and the parallaxes inferred from the absolute magnitudes of Cepheids and RR Lyrae stars analysed with the Baade-Wesselink method. TGAS values also compare favourably with the parallaxes inferred by theoretical model fitting of the multi-band light curves for two of the three classical Cepheids and one RR Lyrae star, which were analysed with this technique in our samples. The K-band PL relations show the significant improvement of the TGAS parallaxes for Cepheids and RR Lyrae stars with respect to the Hipparcos measurements. This is particularly true for the RR Lyrae stars for which improvement in quality and statistics is impressive. Conclusions. TGAS parallaxes bring a significant added value to the previous Hipparcos estimates. The relations presented in this paper represent the first Gaia-calibrated relations and form a work-in-progress milestone report in the wait for Gaia-only parallaxes of which a first solution will become available with Gaia Data Release 2 (DR2) in 2018., This work has made use of results from the European Space Agency (ESA) space mission Gaia, the data from which were processed by the Gaia Data Processing and Analysis Consortium (DPAC). Funding for the DPAC has been provided by national institutions, in particular the institutions participating in the Gaia Multilateral Agreement. The Gaia mission website is http://www.cosmos.esa.int/gaia. The authors are current or past members of the ESA and Airbus DS Gaia mission teams and of the Gaia DPAC. This research has made use of the SIMBAD database, operated at CDS, Strasbourg, France. We thank the referee, Pierre Kervella, for his detailed comments and suggestions that have helped to improve the paper analysis and presentation. This work has financially been supported by: the Agenzia Spaziale Italiana (ASI) through grants I/037/08/0, I/058/10/0, 2014-025-R.0, and 2014-025-R.1.2015 to INAF and contracts I/008/10/0 and 2013/030/I.0 to ALTEC S.p.A.; the Algerian Centre de Recherche en Astronomie, Astrophysique et Géophysique of Bouzareah Observatory; the Austrian FWF Hertha Firnberg Programme through grants T359, P20046, and P23737; the BELgian federal Science Policy Office (BELSPO) through various PROgramme de Développement d’Expériences scientifiques (PRODEX) grants; the Brazil-France exchange programmes FAPESP-COFECUB and CAPES-COFECUB; the Chinese National Science Foundation through grant NSFC 11573054; the Czech-Republic Ministry of Education, Youth, and Sports through grant LG 15010; the Danish Ministry of Science; the Estonian Ministry of Education and Research through grant IUT40-1; the European Commission’s Sixth Framework Programme through the European Leadership in Space Astrometry (ELSA) Marie Curie Research Training Network (MRTN-CT-2006-033481), through Marie Curie project PIOF-GA-2009-255267 (SAS-RRL), and through a Marie Curie Transfer-of-Knowledge (ToK) fellowship (MTKD-CT-2004-014188); the European Commission’s Seventh Framework Programme through grant FP7-606740 (FP7-SPACE-2013-1) for the Gaia European Network for Improved data User Services (GENIUS) and through grant 264895 for the Gaia Research for European Astronomy Training (GREAT-ITN) network; the European Research Council (ERC) through grant 320360 and through the European Union’s Horizon 2020 research and innovation programme through grant agreement 670519 (Mixing and Angular Momentum tranSport of massIvE stars – MAMSIE); the European Science Foundation (ESF), in the framework of the Gaia Research for European Astronomy Training Research Network Programme (GREAT-ESF); the European Space Agency in the framework of the Gaia project; the European Space Agency Plan for European Cooperating States (PECS) programme through grants for Slovenia; the Czech Space Office through ESA PECS contract 98058; the Academy of Finland; the Magnus Ehrnrooth Foundation; the French Centre National de la Recherche Scientifique (CNRS) through action “Défi MASTODONS”; the French Centre National d’Études Spatiales (CNES); the French L’Agence Nationale de la Recherche (ANR) “investissements d’avenir” Initiatives D’EXcellence (IDEX) programme PSL∗ through grant ANR-10-IDEX-0001-02; the Région Aquitaine; the Université de Bordeaux; the French Utinam Institute of the Université de Franche-Comté, supported by the Région de Franche-Comté and the Institut des Sciences de l’Univers (INSU); the German Aerospace Agency (Deutsches Zentrum für Luft- und Raumfahrt e.V., DLR) through grants 50QG0501, 50QG0601, 50QG0602, 50QG0701, 50QG0901, 50QG1001, 50QG1101, 50QG140, 50QG1401, 50QG1402, and 50QG1404; the Hungarian Academy of Sciences through Lendület Programme LP2014-17; the Hungarian National Research, Development, and Innovation Office through grants NKFIH K-115709, K-119517 and PD-116175; the Israel Ministry of Science and Technology through grant 3-9082; the Italian Istituto Nazionale di Astrofisica (INAF); the Netherlands Organisation for Scientific Research (NWO) through grant NWO-M-614.061.414 and through a VICI grant to A. Helmi; the Netherlands Research School forAstronomy (NOVA); the Polish National Science Centre through HARMONIA grant 2015/18/M/ST9/00544; the Portugese Fundação para a Ciência e a Tecnologia (FCT) through grants PTDC/CTE-SPA/118692/2010, PDCTE/CTE-AST/81711/2003, and SFRH/BPD/74697/2010; the Strategic Programmes PEst-OE/AMB/UI4006/2011 for SIM, UID/FIS/00099/2013 for CENTRA, and UID/EEA/00066/2013 for UNINOVA; the Slovenian Research Agency; the Spanish Ministry of Economy MINECO-FEDER through grants AyA2014-55216, AyA2011-24052, ESP2013-48318-C2-R, and ESP2014-55996-C2-R and MDM-2014-0369 of ICCUB (Unidad de Excelencia María de Maeztu); the Swedish National Space Board (SNSB/Rymdstyrelsen); the Swiss State Secretariat for Education, Research, and Innovation through the ESA PRODEX programme; the Swiss Mesures d’Accompagnement; the Swiss Activités Nationales Complémentaires; the Swiss National Science Foundation, including an Early Postdoc.Mobility fellowship; the United Kingdom Rutherford Appleton Laboratory; the United Kingdom Science and Technology Facilities Council (STFC) through grants PP/C506756/1 and ST/I00047X/1; and the United Kingdom Space Agency (UKSA) through grants ST/K000578/1 and ST/N000978/1.
Published: 2017

50. Corrigendum: Principles of the photometric calibration of the G band (Astronomy and Astrophysics (2016) 595 (A7) DOI: 10.1051/0004-6361/201629235)

Author: Carrasco, JM, Evans, DW, Montegriffo, P, Jordi, C, Van Leeuwen, F, Riello, M, Voss, H, De Angeli, F, Busso, G, Fabricius, C, Cacciari, C, Weiler, M, Pancino, E, Brown, AGA, Holland, G, Burgess, P, Osborne, P, Altavilla, G, Gebran, M, Ragaini, S, Galleti, S, Cocozza, G, Marinoni, S, Bellazzini, M, Bragaglia, A, Federici, L, Balaguer-Nez, L, Evans, Dafydd [0000-0002-6685-5998], van Leeuwen, Floor [0000-0003-1781-4441], Riello, Marco [0000-0002-3134-0935], and Apollo - University of Cambridge Repository
Subjects: instrumentation: photometers, techniques: photometric, surveys, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, space vehicles: instruments, Galaxy: general, errata, addenda
Abstract: This paper provides two corrections to the original paper that were due to typographical mistakes. These modifications do not affect the results included in the paper. In our study we used the correct equations and these typographical errors were introduced only while writing the document., This work was supported in part by the MINECO (Spanish Ministry of Economy) – FEDER through grant ESP2013-48318- C2-1-R and MDM-2014-0369 of ICCUB (Unidad de Excelencia “María de Maeztu”). We also thank the Agenzia Spaziale Italiana (ASI) through grants ARS/96/77, ARS/98/92, ARS/99/81, I/R/32/00, I/R/117/01, COFIS-OF06-01, ASI I/016/07/0, ASI I/037/08/0, ASI I/058/10/0, ASI 2014-025-R.0, ASI 2014- 025-R.1.2015, and the Istituto Nazionale di AstroFisica (INAF). This work has been supported by the UK Space Agency, the UK Science and Technology Facilities Council. The research leading to these results has received funding from the European Community’s Seventh Framework Programme (FP7- SPACE-2013-1) under grant agreement No. 606740. The work was supported by The Netherlands Research School for Astronomy (NOVA) and the Netherlands Organisation for Scientific Research (NWO) through grant NWOM- 614.061.414.
Published: 2017

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