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1. A spatially resolved atlas of the human lung characterizes a gland-associated immune niche

Author

Madissoon, Elo, Oliver, Amanda J, Kleshchevnikov, Vitalii, Wilbrey-Clark, Anna, Polanski, Krzysztof, Richoz, Nathan, Ribeiro Orsi, Ana, Mamanova, Lira, Bolt, Liam, Elmentaite, Rasa, Pett, J Patrick, Huang, Ni, Xu, Chuan, He, Peng, Dabrowska, Monika, Pritchard, Sophie, Tuck, Liz, Prigmore, Elena, Perera, Shani, Knights, Andrew, Oszlanczi, Agnes, Hunter, Adam, Vieira, Sara F, Patel, Minal, Lindeboom, Rik GH, Campos, Lia S, Matsuo, Kazuhiko, Nakayama, Takashi, Yoshida, Masahiro, Worlock, Kaylee B, Nikolić, Marko Z, Georgakopoulos, Nikitas, Mahbubani, Krishnaa T, Saeb-Parsy, Kourosh, Bayraktar, Omer Ali, Clatworthy, Menna R, Stegle, Oliver, Kumasaka, Natsuhiko, Teichmann, Sarah A, Meyer, Kerstin B, Oliver, Amanda J [0000-0003-1690-9027], Polanski, Krzysztof [0000-0002-2586-9576], Ribeiro Orsi, Ana [0000-0002-4939-1423], Mamanova, Lira [0000-0003-1463-8622], Elmentaite, Rasa [0000-0001-7366-5466], Pett, J Patrick [0000-0002-5249-444X], He, Peng [0000-0002-2457-3554], Tuck, Liz [0000-0002-1837-7549], Prigmore, Elena [0000-0001-8870-0316], Vieira, Sara F [0000-0002-1021-3021], Lindeboom, Rik GH [0000-0002-3660-504X], Nakayama, Takashi [0000-0002-8493-899X], Yoshida, Masahiro [0000-0002-3521-5322], Worlock, Kaylee B [0000-0002-5656-7634], Nikolić, Marko Z [0000-0001-6304-6848], Georgakopoulos, Nikitas [0000-0002-1879-6583], Mahbubani, Krishnaa T [0000-0002-1327-2334], Saeb-Parsy, Kourosh [0000-0002-0633-3696], Bayraktar, Omer Ali [0000-0001-6055-277X], Kumasaka, Natsuhiko [0000-0002-3557-0375], Teichmann, Sarah A [0000-0002-6294-6366], Meyer, Kerstin B [0000-0001-5906-1498], and Apollo - University of Cambridge Repository

Subjects
B-Lymphocytes, 631/250, Genetics, article, Humans, Epithelial Cells, 631/443, Respiratory Mucosa, 631/80, 692/699/1785, Lung, Immunoglobulin A
Abstract

Single-cell transcriptomics has allowed unprecedented resolution of cell types/states in the human lung, but their spatial context is less well defined. To (re)define tissue architecture of lung and airways, we profiled five proximal-to-distal locations of healthy human lungs in depth using multi-omic single cell/nuclei and spatial transcriptomics (queryable atlungcellatlas.org). Using computational data integration and analysis, we extend beyond the suspension cell paradigm and discover macro and micro-anatomical tissue compartments including previously unannotated cell types in the epithelial, vascular, stromal and nerve bundle micro-environments. We identify and implicate peribronchial fibroblasts in lung disease. Importantly, we discover and validate a survival niche for IgA plasma cells in the airway submucosal glands (SMG). We show that gland epithelial cells recruit B cells and IgA plasma cells, and promote longevity and antibody secretion locally through expression of CCL28, APRIL and IL-6. This new ‘gland-associated immune niche’ has implications for respiratory health.

Published
2023

2. Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

Author

Aggarwal, Dinesh, Page, Andrew J., Schaefer, Ulf, Savva, George M., Myers, Richard, Volz, Erik, Ellaby, Nicholas, Platt, Steven, Groves, Natalie, Gallagher, Eileen, Tumelty, Niamh M., Le Viet, Thanh, Hughes, Gareth J., Chen, Cong, Turner, Charlie, Logan, Sophie, Harrison, Abbie, The COVID-19 Genomics UK (COG, Ash, Amy, Wise, Emma, Moore, Nathan, Mori, Matilde, Cortes, Nick, Lynch, Jessica, Kidd, Stephen, Fairley, Derek J., Curran, Tanya, McKenna, James P., Adams, Helen, Fraser, Christophe, Golubchik, Tanya, Bonsall, David, Hassan-Ibrahim, Mohammed O., Malone, Cassandra S., Cogger, Benjamin J., Wantoch, Michelle, Reynolds, Nicola, Warne, Ben, Maksimovic, Joshua, Spellman, Karla, McCluggage, Kathryn, John, Michaela, Beer, Robert, Afifi, Safiah, Morgan, Sian, Marchbank, Angela, Price, Anna, Kitchen, Christine, Gulliver, Huw, Merrick, Ian, Southgate, Joel, Guest, Martyn, Munn, Robert, Workman, Trudy, Connor, Thomas R., Fuller, William, Bresner, Catherine, Snell, Luke B., Patel, Amita, Charalampous, Themoula, Nebbia, Gaia, Batra, Rahul, Edgeworth, Jonathan, Robson, Samuel C., Beckett, Angela H., Aanensen, David M., Underwood, Anthony P., Yeats, Corin A., Abudahab, Khalil, Taylor, Ben E. W., Menegazzo, Mirko, Clark, Gemma, Smith, Wendy, Khakh, Manjinder, Fleming, Vicki M., Lister, Michelle M., Howson-Wells, Hannah C., Berry, Louise, Boswell, Tim, Joseph, Amelia, Willingham, Iona, Jones, Carl, Holmes, Christopher, Bird, Paul, Helmer, Thomas, Fallon, Karlie, Tang, Julian, Raviprakash, Veena, Campbell, Sharon, Sheriff, Nicola, Blakey, Victoria, Williams, Lesley-Anne, Loose, Matthew W., Holmes, Nadine, Moore, Christopher, Carlile, Matthew, Wright, Victoria, Sang, Fei, Debebe, Johnny, Coll, Francesc, Signell, Adrian W., Betancor, Gilberto, Wilson, Harry D., Eldirdiri, Sahar, Kenyon, Anita, Davis, Thomas, Pybus, Oliver G., du Plessis, Louis, Zarebski, Alex E., Raghwani, Jayna, Kraemer, Moritz U. G., Francois, Sarah, Attwood, Stephen W., Vasylyeva, Tetyana I., Zamudio, Marina Escalera, Gutierrez, Bernardo, Torok, M. Estee, Hamilton, William L., Goodfellow, Ian G., Hall, Grant, Jahun, Aminu S., Chaudhry, Yasmin, Hosmillo, Myra, Pinckert, Malte L., Georgana, Iliana, Moses, Samuel, Lowe, Hannah, Bedford, Luke, Moore, Jonathan, Stonehouse, Susanne, Fisher, Chloe L., Awan, Ali R., BoYes, John, Breuer, Judith, Harris, Kathryn A., Brown, Julianne R., Shah, Divya, Atkinson, Laura, Lee, Jack C. D., Storey, Nathaniel, Flaviani, Flavia, Alcolea-Medina, Adela, Williams, Rebecca, Vernet, Gabrielle, Chapman, Michael R., Levett, Lisa J., Heaney, Judith, Chatterton, Wendy, Pusok, Monika, Xu-McCrae, Li, Smith, Darren, Bashton, Matthew, Young, Greg, Holmes, Alison, Randell, Paul A., Cox, Alison, Madona, Pinglawathee, Bolt, Frances, Price, James, Mookerjee, Siddharth, Ragonnet-Cronin, Manon, Nascimento, Fabricia F., Jorgensen, David, Siveroni, Igor, Johnson, Rob, Boyd, Olivia, Geidelberg, Lily, Volz, Erik M., Rowan, Aileen, Taylor, Graham P., Smollett, Katherine L., Loman, Nicholas J., Quick, Joshua, McMurray, Claire, Stockton, Joanne, Nicholls, Sam, Rowe, Will, Poplawski, Radoslaw, McNally, Alan, Nunez, Rocio T. Martinez, Mason, Jenifer, Robinson, Trevor I., O’Toole, Elaine, Watts, Joanne, Breen, Cassie, Cowell, Angela, Sluga, Graciela, Machin, Nicholas W., Ahmad, Shazaad S. Y., George, Ryan P., Halstead, Fenella, Sivaprakasam, Venkat, Hogsden, Wendy, Illingworth, Chris J., Jackson, Chris, Thomson, Emma C., Shepherd, James G., Asamaphan, Patawee, Niebel, Marc O., Li, Kathy K., Shah, Rajiv N., Jesudason, Natasha G., Tong, Lily, Broos, Alice, Mair, Daniel, Nichols, Jenna, Carmichael, Stephen N., Nomikou, Kyriaki, Aranday-Cortes, Elihu, Johnson, Natasha, Starinskij, Igor, da Silva Filipe, Ana, Robertson, David L., Orton, Richard J., Hughes, Joseph, Vattipally, Sreenu, Singer, Joshua B., Nickbakhsh, Seema, Hale, Antony D., Macfarlane-Smith, Louissa R., Harper, Katherine L., Carden, Holli, Taha, Yusri, Payne, Brendan A. I., Burton-Fanning, Shirelle, Waugh, Sheila, Collins, Jennifer, Eltringham, Gary, Rushton, Steven, O’Brien, Sarah, Bradley, Amanda, Maclean, Alasdair, Mollett, Guy, Blacow, Rachel, Templeton, Kate E., McHugh, Martin P., Dewar, Rebecca, Wastenge, Elizabeth, Dervisevic, Samir, Stanley, Rachael, Meader, Emma J., Coupland, Lindsay, Smith, Louise, Graham, Clive, Barton, Edward, Padgett, Debra, Scott, Garren, Swindells, Emma, Greenaway, Jane, Nelson, Andrew, McCann, Clare, Yew, Wen Chyin, Andersson, Monique, Peto, Timothy, Justice, Anita, Eyre, David, Crook, Derrick, Sloan, Tim J., Duckworth, Nichola, Walsh, Sarah, Chauhan, Anoop J., Glaysher, Sharon, Bicknell, Kelly, Wyllie, Sarah, Elliott, Scott, Lloyd, Allyson, Impey, Robert, Levene, Nick, Monaghan, Lynn, Bradley, Declan T., Wyatt, Tim, Allara, Elias, Pearson, Clare, Osman, Husam, Bosworth, Andrew, Robinson, Esther, Muir, Peter, Vipond, Ian B., Hopes, Richard, Pymont, Hannah M., Hutchings, Stephanie, Curran, Martin D., Parmar, Surendra, Lackenby, Angie, Mbisa, Tamyo, Miah, Shahjahan, Bibby, David, Manso, Carmen, Hubb, Jonathan, Dabrera, Gavin, Ramsay, Mary, Bradshaw, Daniel, Thornton, Alicia, Lee, David, Williams, David, Harrison, Ian, Hartman, Hassan, Manesis, Nikos, Patel, Vineet, Bishop, Chloe, Chalker, Vicki, Ledesma, Juan, Twohig, Katherine A., Holden, Matthew T. G., Shaaban, Sharif, Birchley, Alec, Adams, Alexander, Davies, Alisha, Gaskin, Amy, Plimmer, Amy, Gatica-Wilcox, Bree, McKerr, Caoimhe, Moore, Catherine, Williams, Chris, Heyburn, David, De Lacy, Elen, Hilvers, Ember, Downing, Fatima, Shankar, Giri, Jones, Hannah, Asad, Hibo, Coombes, Jason, Watkins, Joanne, Evans, Johnathan M., Fina, Laia, Gifford, Laura, Gilbert, Lauren, Graham, Lee, Perry, Malorie, Morgan, Mari, Bull, Matthew, Cronin, Michelle, Pacchiarini, Nicole, Craine, Noel, Jones, Rachel, Howe, Robin, Corden, Sally, Rey, Sara, Kumziene-SummerhaYes, Sara, Taylor, Sarah, Cottrell, Simon, Jones, Sophie, Edwards, Sue, O’Grady, Justin, Mather, Alison E., Baker, David J., Rudder, Steven, Aydin, Alp, Kay, Gemma L., Trotter, Alexander J., Alikhan, Nabil-Fareed, de Oliveira Martins, Leonardo, Le-Viet, Thanh, Meadows, Lizzie, Casey, Anna, Ratcliffe, Liz, Simpson, David A., Molnar, Zoltan, Thompson, Thomas, Acheson, Erwan, Masoli, Jane A. H., Knight, Bridget A., Ellard, Sian, Auckland, Cressida, Jones, Christopher R., Mahungu, Tabitha W., Irish-Tavares, Dianne, Haque, Tanzina, Hart, Jennifer, Witele, Eric, Fenton, Melisa L., Dadrah, Ashok, Symmonds, Amanda, Saluja, Tranprit, Bourgeois, Yann, Scarlett, Garry P., Loveson, Katie F., Goudarzi, Salman, Fearn, Christopher, Cook, Kate, Dent, Hannah, Paul, Hannah, Partridge, David G., Raza, Mohammad, Evans, Cariad, Johnson, Kate, Liggett, Steven, Baker, Paul, Bonner, Stephen, Essex, Sarah, Lyons, Ronan A., Saeed, Kordo, Mahanama, Adhyana I. K., Samaraweera, Buddhini, Silveira, Siona, Pelosi, Emanuela, Wilson-Davies, Eleri, Williams, Rachel J., Kristiansen, Mark, Roy, Sunando, Williams, Charlotte A., Cotic, Marius, Bayzid, Nadua, Westhorpe, Adam P., Hartley, John A., Jannoo, Riaz, Lowe, Helen L., Karamani, Angeliki, Ensell, Leah, Prieto, Jacqui A., Jeremiah, Sarah, Grammatopoulos, Dimitris, Pandey, Sarojini, Berry, Lisa, Jones, Katie, Richter, Alex, Beggs, Andrew, Best, Angus, Percival, Benita, Mirza, Jeremy, Megram, Oliver, Mayhew, Megan, Crawford, Liam, Ashcroft, Fiona, Moles-Garcia, Emma, Cumley, Nicola, Smith, Colin P., Bucca, Giselda, Hesketh, Andrew R., Blane, Beth, Girgis, Sophia T., Leek, Danielle, Sridhar, Sushmita, Forrest, Sally, Cormie, Claire, Gill, Harmeet K., Dias, Joana, Higginson, Ellen E., Maes, Mailis, Young, Jamie, Kermack, Leanne M., Gupta, Ravi K., Ludden, Catherine, Peacock, Sharon J., Palmer, Sophie, Churcher, Carol M., Hadjirin, Nazreen F., Carabelli, Alessandro M., Brooks, Ellena, Smith, Kim S., Galai, Katerina, McManus, Georgina M., Ruis, Chris, Davidson, Rose K., Rambaut, Andrew, Williams, Thomas, Balcazar, Carlos E., Gallagher, Michael D., O’Toole, Áine, Rooke, Stefan, Hill, Verity, Williamson, Kathleen A., Stanton, Thomas D., Michell, Stephen L., Bewshea, Claire M., Temperton, Ben, Michelsen, Michelle L., Warwick-Dugdale, Joanna, Manley, Robin, Farbos, Audrey, Harrison, James W., Sambles, Christine M., Studholme, David J., Jeffries, Aaron R., Darby, Alistair C., Hiscox, Julian A., Paterson, Steve, Iturriza-Gomara, Miren, Jackson, Kathryn A., Lucaci, Anita O., Vamos, Edith E., Hughes, Margaret, Rainbow, Lucille, Eccles, Richard, Nelson, Charlotte, Whitehead, Mark, Turtle, Lance, Haldenby, Sam T., Gregory, Richard, Gemmell, Matthew, Wierzbicki, Claudia, Webster, Hermione J., de Silva, Thushan I., Smith, Nikki, Angyal, Adrienn, Lindsey, Benjamin B., Groves, Danielle C., Green, Luke R., Wang, Dennis, Freeman, Timothy M., Parker, Matthew D., Keeley, Alexander J., Parsons, Paul J., Tucker, Rachel M., Brown, Rebecca, Wyles, Matthew, Whiteley, Max, Zhang, Peijun, Gallis, Marta, Louka, Stavroula F., Constantinidou, Chrystala, Unnikrishnan, Meera, Ott, Sascha, Cheng, Jeffrey K. J., Bridgewater, Hannah E., Frost, Lucy R., Taylor-Joyce, Grace, Stark, Richard, Baxter, Laura, Alam, Mohammad T., Brown, Paul E., Cerda, Alberto C., Merrill, Tammy V., Wilson, Rebekah E., McClure, Patrick C., Chappell, Joseph G., Tsoleridis, Theocharis, Ball, Jonathan, Buck, David, Todd, John A., Green, Angie, Trebes, Amy, MacIntyre-Cockett, George, de Cesare, Mariateresa, Alderton, Alex, Amato, Roberto, Ariani, Cristina V., Beale, Mathew A., Beaver, Charlotte, Bellis, Katherine L., Betteridge, Emma, Bonfield, James, Danesh, John, Dorman, Matthew J., Drury, Eleanor, Farr, Ben W., Foulser, Luke, Goncalves, Sonia, Goodwin, Scott, Gourtovaia, Marina, Harrison, Ewan M., Jackson, David K., Jamrozy, Dorota, Johnston, Ian, Kane, Leanne, Kay, Sally, Keatley, Jon-Paul, Kwiatkowski, Dominic, Langford, Cordelia F., Lawniczak, Mara, Letchford, Laura, Livett, Rich, Lo, Stephanie, Martincorena, Inigo, McGuigan, Samantha, Nelson, Rachel, Palmer, Steve, Park, Naomi R., Patel, Minal, Prestwood, Liam, Puethe, Christoph, Quail, Michael A., Rajatileka, Shavanthi, Scott, Carol, Shirley, Lesley, Sillitoe, John, Chapman, Michael H. Spencer, Thurston, Scott A. J., Tonkin-Hill, Gerry, Weldon, Danni, Rajan, Diana, Bronner, Iraad F., Aigrain, Louise, Redshaw, Nicholas M., Lensing, Stefanie V., Davies, Robert, Whitwham, Andrew, Liddle, Jennifier, Lewis, Kevin, Tovar-Corona, Jaime M., Leonard, Steven, Durham, Jillian, Bassett, Andrew R., McCarthy, Shane, Moll, Robin J., James, Keith, Oliver, Karen, Makunin, Alex, Barrett, Jeff, Gunson, Rory N., Koshy, Cherian, Chand, Meera, Aggarwal, Dinesh [0000-0002-5938-8172], Page, Andrew J [0000-0001-6919-6062], Volz, Erik [0000-0001-6268-8937], Tumelty, Niamh M [0000-0002-9894-6034], Le Viet, Thanh [0000-0002-2106-8130], Hughes, Gareth J [0000-0002-3781-0117], Harrison, Abbie [0000-0002-7435-9994], Peacock, Sharon J [0000-0002-1718-2782], and Apollo - University of Cambridge Repository

Subjects
631/326/1762, 631/326/325/2483, General Physics and Astronomy, 45/23, Genome, Viral, General Biochemistry, Genetics and Molecular Biology, COVID-19 Genomics UK (COG-UK) Consortium, Communicable Diseases, Imported, Humans, 631/326/596/4130, Travel, Multidisciplinary, Science & Technology, 45, SARS-CoV-2, article, COVID-19, General Chemistry, Genomics, A300, C700, 692/700/478/174, B900, Multidisciplinary Sciences, England, Quarantine, Science & Technology - Other Topics, Health Impact Assessment, Contact Tracing, Travel-Related Illness, human activities
Abstract

Mitigation of SARS-CoV-2 transmission from international travel is a priority. We evaluated the effectiveness of travellers being required to quarantine for 14-days on return to England in Summer 2020. We identified 4,207 travel-related SARS-CoV-2 cases and their contacts, and identified 827 associated SARS-CoV-2 genomes. Overall, quarantine was associated with a lower rate of contacts, and the impact of quarantine was greatest in the 16-20 age-group. 186 SARS-CoV-2 genomes were sufficiently unique to identify travel-related clusters. Fewer genomically-linked cases were observed for index cases who returned from countries with quarantine requirement compared to countries with no quarantine requirement. This difference was explained by fewer importation events per identified genome for these cases, as opposed to fewer onward contacts per case. Overall, our study demonstrates that a 14-day quarantine period reduces, but does not completely eliminate, the onward transmission of imported cases, mainly by dissuading travel to countries with a quarantine requirement., We thank members of the COVID-19 Genomics Consortium UK and Test and Trace contact tracers for their contributions to generating the data used in this study. We thank the Sanger Covid Team for assisting with Samples and Logistics. We thank Sarah Mitchell from the Department of Plant Sciences, University of Cambridge, for direction on statistical analysis. DA is a Clinical PhD Fellow and gratefully supported by the Wellcome Trust (Grant number: 222903/Z/21/Z). EMH is supported by a UK Research and Innovation (UKRI) Fellowship: MR/S00291X/1. AJP, TLV, GMS gratefully acknowledge the support of the Biotechnology and Biological Sciences Research Council (BBSRC); their research was funded by the BBSRC Institute Strategic Programme Microbes in the Food Chain BB/R012504/1 and its constituent project BBS/E/F/000PR10352, also Quadram Institute Bioscience BBSRC funded Core Capability Grant (project number BB/CCG1860/1). The COVID-19 Genomics UK (COG-UK) Consortium is supported by funding from the Medical Research Council (MRC) part of UK Research & Innovation (UKRI), the National Institute of Health Research (NIHR) and Genome Research Limited, operating as the Wellcome Sanger Institute. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Published
2022

3. Management of Edentulous Hemimandibulectomy Patient with Implant Retained Overdenture- A Case Report

Author

Akshay Patel, Ronad, Sunil, Gandhewar, Mahesh, Sayali D. Kuwlekar, Nagaral, Suresh, Dodamani, Girija, and Patel, Minal

Subjects
hemimandibulectomy, osseointegrated implant, ball attachments
Abstract

Segmental hemimandibulectomy is the partial resection of the mandible owing to oral neoplasms. This causes deviation of the remaining mandible segment towards the resected side and loss of continuity. Prosthetic rehabilitation plays a vital role in such cases. The case report discussed in this article was a case of segmental hemimandibulectomy which had been rehabilitated with the use of three osseointegrated implants in the remaining bone site. An overdenture was supported on the implants with ball attachments. This case report presents an alternate way to rehabilitate a patient with partial mandibular resection when surgical reconstruction is not possible.

Published
2021
Full Text
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4. Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation

Author

Jerber, Julie, Seaton, Daniel D, Cuomo, Anna SE, Kumasaka, Natsuhiko, Haldane, James, Steer, Juliette, Patel, Minal, Pearce, Daniel, Andersson, Malin, Bonder, Marc Jan, Mountjoy, Ed, Ghoussaini, Maya, Lancaster, Madeline A, HipSci Consortium, Marioni, John C, Merkle, Florian T, Gaffney, Daniel J, Stegle, Oliver, Seaton, Daniel D [0000-0002-5222-3893], Cuomo, Anna SE [0000-0001-5168-6979], Kumasaka, Natsuhiko [0000-0002-3557-0375], Haldane, James [0000-0001-7778-9036], Steer, Juliette [0000-0001-8086-7955], Andersson, Malin [0000-0003-1935-1989], Marioni, John C [0000-0001-9092-0852], Merkle, Florian T [0000-0002-8513-2998], Gaffney, Daniel J [0000-0002-1529-1862], Stegle, Oliver [0000-0002-8818-7193], and Apollo - University of Cambridge Repository

Subjects
Oxidative Stress, Sequence Analysis, RNA, Dopaminergic Neurons, Neurogenesis, Rotenone, Induced Pluripotent Stem Cells, Quantitative Trait Loci, Humans, Cell Differentiation, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 1, Single-Cell Analysis, Transcriptome
Abstract

Studying the function of common genetic variants in primary human tissues and during development is challenging. To address this, we use an efficient multiplexing strategy to differentiate 215 human induced pluripotent stem cell (iPSC) lines toward a midbrain neural fate, including dopaminergic neurons, and use single-cell RNA sequencing (scRNA-seq) to profile over 1 million cells across three differentiation time points. The proportion of neurons produced by each cell line is highly reproducible and is predictable by robust molecular markers expressed in pluripotent cells. Expression quantitative trait loci (eQTL) were characterized at different stages of neuronal development and in response to rotenone-induced oxidative stress. Of these, 1,284 eQTL colocalize with known neurological trait risk loci, and 46% are not found in the Genotype-Tissue Expression (GTEx) catalog. Our study illustrates how coupling scRNA-seq with long-term iPSC differentiation enables mechanistic studies of human trait-associated genetic variants in otherwise inaccessible cell states.

Published
2021

5. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes (vol 26, pg 1549, 2020)

Author

Bernard, Elsa, Nannya, Yasuhito, Hasserjian, Robert P., Devlin, Sean M., Tuechler, Heinz, Medina-Martinez, Juan S., Yoshizato, Tetsuichi, Shiozawa, Yusuke, Saiki, Ryunosuke, Malcovati, Luca, Levine, Max F., Arango, Juan E., Zhou, Yangyu, Sole, Francesc, Cargo, Catherine A., Haase, Detlef, Creignou, Maria, Germing, Ulrich, Zhang, Yanming, Gundem, Gunes, Sarian, Araxe, van de Loosdrecht, Arjan A., Jadersten, Martin, Tobiasson, Magnus, Kosmider, Olivier, Follo, Matilde Y., Thol, Felicitas, Pinheiro, Ronald F., Santini, Valeria, Kotsianidis, Ioannis, Boultwood, Jacqueline, Santos, Fabio P. S., Schanz, Julie, Kasahara, Senji, Ishikawa, Takayuki, Tsurumi, Hisashi, Takaori-Kondo, Akifumi, Kiguchi, Toru, Polprasert, Chantana, Bennett, John M., Klimek, Virginia M., Savona, Michael R., Belickova, Monika, Ganster, Christina, Palomo, Laura, Sanz, Guillermo, Ades, Lionel, Della Porta, Matteo Giovanni, Smith, Alexandra G., Werner, Yesenia, Patel, Minal, Viale, Agnes, Vanness, Katelynd, Neuberg, Donna S., Stevenson, Kristen E., Menghrajani, Kamal, Bolton, Kelly L., Fenaux, Pierre, Pellagatti, Andrea, Platzbecker, Uwe, Heuser, Michael, Valent, Peter, Chiba, Shigeru, Miyazaki, Yasushi, Finelli, Carlo, Voso, Maria Teresa, Shih, Lee-Yung, Fontenay, Michaela, Jansen, Joop H., Cervera, Jose, Atsuta, Yoshiko, Gattermann, Norbert, Ebert, Benjamin L., Bejar, Rafael, Greenberg, Peter L., Cazzola, Mario, Hellstrom-Lindberg, Eva, Ogawa, Seishi, Papaemmanuil, Elli, and Elias, Harold K

Abstract

A Correction to this paper has been published: .

Published
2021

6. Population-scale proteome variation in human induced pluripotent stem cells

Author

Mirauta, Bogdan Andrei, Seaton, Daniel D, Bensaddek, Dalila, Brenes, Alejandro, Bonder, Marc Jan, Kilpinen, Helena, Agu, Chukwuma A, Alderton, Alex, Danecek, Petr, Denton, Rachel, Durbin, Richard, Gaffney, Daniel J, Goncalves, Angela, Halai, Reena, Harper, Sarah, Kirton, Christopher M, Kolb-Kokocinski, Anja, Leha, Andreas, McCarthy, Shane A, Memari, Yasin, Patel, Minal, Birney, Ewan, Casale, Francesco Paolo, Clarke, Laura, Harrison, Peter W, Streeter, Ian, Denovi, Davide, Stegle, Oliver, Lamond, Angus I, Meleckyte, Ruta, Moens, Natalie, Watt, Fiona M, Ouwehand, Willem H, Beales, Philip, Mirauta, Bogdan Andrei [0000-0002-9733-292X], Bonder, Marc Jan [0000-0002-8431-3180], Kilpinen, Helena [0000-0001-6692-6154], Stegle, Oliver [0000-0002-8818-7193], Lamond, Angus I [0000-0001-6204-6045], Apollo - University of Cambridge Repository, and Helsinki Institute of Life Science HiLIFE

Subjects
Male, Proteomics, Proteome, Genome-wide association study, VARIANTS, Transcriptome, 0302 clinical medicine, SCHIZOPHRENIA, Human proteome project, genetics, Disease, Biology (General), Induced pluripotent stem cell, Child, GENE-EXPRESSION, 0303 health sciences, education.field_of_study, Drug discovery, General Neuroscience, General Medicine, Middle Aged, Phenotype, Child, Preschool, Medicine, ABUNDANCE, Female, Research Article, Adult, Adolescent, Genotype, QH301-705.5, induced pluripotent stem cells, Science, Population, Quantitative Trait Loci, deleterious variants, Genomics, Computational biology, Quantitative trait locus, Biology, General Biochemistry, Genetics and Molecular Biology, DIFFERENTIAL EXPRESSION, 03 medical and health sciences, Young Adult, RESOURCE, REVEALS, genomics, Humans, human, RNA, Messenger, education, 030304 developmental biology, Aged, IDENTIFICATION, General Immunology and Microbiology, Infant, Newborn, Genetic Variation, Infant, Genetics and Genomics, QUANTIFICATION, Genetics, Population, REGULATORY VARIATION, 3111 Biomedicine, 030217 neurology & neurosurgery
Abstract

Human disease phenotypes are driven primarily by alterations in protein expression and/or function. To date, relatively little is known about the variability of the human proteome in populations and how this relates to variability in mRNA expression and to disease loci. Here, we present the first comprehensive proteomic analysis of human induced pluripotent stem cells (iPSC), a key cell type for disease modelling, analysing 202 iPSC lines derived from 151 donors, with integrated transcriptome and genomic sequence data from the same lines. We characterised the major genetic and non-genetic determinants of proteome variation across iPSC lines and assessed key regulatory mechanisms affecting variation in protein abundance. We identified 654 protein quantitative trait loci (pQTLs) in iPSCs, including disease-linked variants in protein-coding sequences and variants with trans regulatory effects. These include pQTL linked to GWAS variants that cannot be detected at the mRNA level, highlighting the utility of dissecting pQTL at peptide level resolution.

Published
2020

7. Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Author

Cuomo, Anna S. E., Seaton, Daniel D., McCarthy, Davis J., Martinez, Iker, Bonder, Marc Jan, Garcia-Bernardo, Jose, Amatya, Shradha, Madrigal, Pedro, Isaacson, Abigail, Buettner, Florian, Knights, Andrew, Natarajan, Kedar Nath, Vallier, Ludovic, Marioni, John C., Chhatriwala, Mariya, Stegle, Oliver, Agu, Chukwuma A., Alderton, Alex, Danecek, Petr, Denton, Rachel, Durbin, Richard, Gaffney, Daniel J., Goncalves, Angela, Halai, Reena, Harper, Sarah, Kirton, Christopher M., Kolb-Kokocinski, Anja, Leha, Andreas, McCarthy, Shane A., Memari, Yasin, Patel, Minal, Birney, Ewan, Casale, Francesco Paolo, Clarke, Laura, Harrison, Peter W., Kilpinen, Helena, Streeter, Ian, Denovi, Davide, Meleckyte, Ruta, Moens, Natalie, Watt, Fiona M., Ouwehand, Willem H., Lamond, Angus I., Bensaddek, Dalila, Beales, Philip, Seaton, Daniel D. [0000-0002-5222-3893], McCarthy, Davis J. [0000-0002-2218-6833], Madrigal, Pedro [0000-0003-1959-8199], Knights, Andrew [0000-0003-2107-4175], Natarajan, Kedar Nath [0000-0002-9264-1280], Vallier, Ludovic [0000-0002-3848-2602], Marioni, John C. [0000-0001-9092-0852], and Apollo - University of Cambridge Repository

Subjects
13/31, 45/91, 631/532/2064/2158, 631/208/729/743, 45/43, article, 631/208/191, 631/208/205, 45/100, 45/15, 38/91
Abstract

Recent developments in stem cell biology have enabled the study of cell fate decisions in early human development that are impossible to study in vivo. However, understanding how development varies across individuals and, in particular, the influence of common genetic variants during this process has not been characterised. Here, we exploit human iPS cell lines from 125 donors, a pooled experimental design, and single-cell RNA-sequencing to study population variation of endoderm differentiation. We identify molecular markers that are predictive of differentiation efficiency of individual lines, and utilise heterogeneity in the genetic background across individuals to map hundreds of expression quantitative trait loci that influence expression dynamically during differentiation and across cellular contexts.

Published
2020

8. HPP868222_suppl_mat – Supplemental material for JUUL in School: Teacher and Administrator Awareness and Policies of E-Cigarettes and JUUL in U.S. Middle and High Schools

Author

Schillo, Barbara A., Cuccia, Alison F., Patel, Minal, Simard, Bethany, Donovan, Emily M., Hair, Elizabeth C., and Vallone, Donna

Subjects
Sociology, 111708 Health and Community Services, 111799 Public Health and Health Services not elsewhere classified, FOS: Health sciences, FOS: Sociology
Abstract

Supplemental material, HPP868222_suppl_mat for JUUL in School: Teacher and Administrator Awareness and Policies of E-Cigarettes and JUUL in U.S. Middle and High Schools by Barbara A. Schillo, Alison F. Cuccia, Minal Patel, Bethany Simard, Emily M. Donovan, Elizabeth C. Hair and Donna Vallone in Health Promotion Practice

Published
2019
Full Text
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9. Statins and Hepatitis C Therapy: A Retrospective Analysis in a Veteran Medical Center

Author

Kamil Obideen, Mohamad Wehbi, Kristina Chacko, Andrew Simpson, Sakaria Sonali, Samir Parekh, and Patel Minal

Subjects
Pediatrics, medicine.medical_specialty, Hepatology, business.industry, Gastroenterology, medicine, Retrospective analysis, Center (algebra and category theory), Hepatitis C, medicine.disease, business
Published
2007

10. Common genetic variation drives molecular heterogeneity in human iPSCs

Author

Kilpinen, Helena, Goncalves, Angela, Leha, Andreas, Afzal, Vackar, Alasoo, Kaur, Ashford, Sofie, Bala, Sendu, Bensaddek, Dalila, Casale, Francesco Paolo, Culley, Oliver J, Danecek, Petr, Faulconbridge, Adam, Harrison, Peter W, Kathuria, Annie, McCarthy, Davis, McCarthy, Shane A, Meleckyte, Ruta, Memari, Yasin, Moens, Nathalie, Soares, Filipa, Mann, Alice, Streeter, Ian, Agu, Chukwuma A, Alderton, Alex, Nelson, Rachel, Harper, Sarah, Patel, Minal, White, Alistair, Patel, Sharad R, Clarke, Laura, Halai, Reena, Kirton, Christopher M, Kolb-Kokocinski, Anja, Beales, Philip, Birney, Ewan, Danovi, Davide, Lamond, Angus I, Ouwehand, Willem H, Vallier, Ludovic, Watt, Fiona M, Durbin, Richard, Stegle, Oliver, and Gaffney, Daniel J

Subjects
Quality Control, DNA Copy Number Variations, Genotype, Induced Pluripotent Stem Cells, Quantitative Trait Loci, Genetic Variation, Cellular Reprogramming, 3. Good health, Phenotype, Gene Expression Regulation, Organ Specificity, Humans, Transcriptome, Cells, Cultured
Abstract

Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterization of many existing iPS cell lines limits their potential use for research and therapy. Here we describe the systematic generation, genotyping and phenotyping of 711 iPS cell lines derived from 301 healthy individuals by the Human Induced Pluripotent Stem Cells Initiative. Our study outlines the major sources of genetic and phenotypic variation in iPS cells and establishes their suitability as models of complex human traits and cancer. Through genome-wide profiling we find that 5-46% of the variation in different iPS cell phenotypes, including differentiation capacity and cellular morphology, arises from differences between individuals. Additionally, we assess the phenotypic consequences of genomic copy-number alterations that are repeatedly observed in iPS cells. In addition, we present a comprehensive map of common regulatory variants affecting the transcriptome of human pluripotent cells.

11. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease and histiocytic sarcoma

Author

Haroche, Julien, Diamond, Eli L., Emile, Jean-Francois, Helias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frederic, Hyman, David M., Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Karen Leroy, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Phlippe, Donadieu, Jean, Taly, Valerie, Amoura, Zahir, and Abdel-Wahab, Omar

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