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1. The genomic landscape of 2,023 colorectal cancers

Author

Cornish, Alex J., Gruber, Andreas J., Kinnersley, Ben, Chubb, Daniel, Frangou, Anna, Caravagna, Giulio, Noyvert, Boris, Lakatos, Eszter, Wood, Henry M., Thorn, Steve, Culliford, Richard, Arnedo-Pac, Claudia, Househam, Jacob, Cross, William, Sud, Amit, Law, Philip, Leathlobhair, Maire Ni, Hawari, Aliah, Woolley, Connor, Sherwood, Kitty, Feeley, Nathalie, Gül, Güler, Fernandez-Tajes, Juan, Zapata, Luis, Alexandrov, Ludmil B., Murugaesu, Nirupa, Sosinsky, Alona, Mitchell, Jonathan, Lopez-Bigas, Nuria, Quirke, Philip, Church, David N., Tomlinson, Ian P. M., Sottoriva, Andrea, Graham, Trevor A., Wedge, David C., and Houlston, Richard S.

Published
2024
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3. Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

Author

Burren, Oliver S., Dhindsa, Ryan S., Deevi, Sri V. V., Wen, Sean, Nag, Abhishek, Mitchell, Jonathan, Hu, Fengyuan, Loesch, Douglas P., Smith, Katherine R., Razdan, Neetu, Olsson, Henric, Platt, Adam, Vitsios, Dimitrios, Wu, Qiang, Codd, Veryan, Nelson, Christopher P., Samani, Nilesh J., March, Ruth E., Wasilewski, Sebastian, Carss, Keren, Fabre, Margarete, Wang, Quanli, Pangalos, Menelas N., and Petrovski, Slavé

Published
2024
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4. Half a century of citizen science tag-recapture data reveals stock delineation and cross-jurisdictional connectivity of an iconic pelagic fish

Author

Goddard, Belinda K., Guillemin, Tristan A., Schilling, Hayden T., Hughes, Julian M., Brodie, Stephanie, Green, Corey P., Harcourt, Robert, Huveneers, Charlie, Ierodiaconou, Daniel, Suthers, Iain M., Taylor, Matthew D., Tracey, Sean R., Camilieri-Asch, Victoria, Clarke, Thomas M., Dwyer, Ross G., Hilbert, Clay, Holdsworth, John, Mitchell, Jonathan, Pepperell, Julian, Simpson, Emma, Udyawer, Vinay, and Jaine, Fabrice R. A.

Published
2024
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5. A simple model for the emergence of relaxation-oscillator convection

Author

Spaulding-Astudillo, Francisco E. and Mitchell, Jonathan L.

Subjects
Astrophysics - Earth and Planetary Astrophysics, Physics - Atmospheric and Oceanic Physics, Physics - Fluid Dynamics
Abstract

Earth's tropics are characterized by quasi-steady precipitation with small oscillations about a mean value, which has led to the hypothesis that moist convection is in a state of quasi-equilibrium (QE). In contrast, very warm simulations of Earth's tropical convection are characterized by relaxation-oscillator-like (RO) precipitation, with short-lived convective storms and torrential rainfall forming and dissipating at regular intervals with little to no precipitation in between. We develop a model of moist convection by combining a zero-buoyancy model of bulk-plume convection with a QE heat engine model, and we use it to show that QE is violated at high surface temperatures. We hypothesize that the RO state emerges when the equilibrium condition of the convective heat engine is violated, i.e., when the net cooling times a thermodynamic efficiency exceeds the work that can be performed. We test our hypothesis against one- and three-dimensional numerical simulations and find that it accurately predicts the onset of RO convection. The proposed mechanism for RO emergence from QE breakdown is agnostic of the condensing component, and can be applied to any planetary atmosphere undergoing moist convection. To date, RO states have only been demonstrated in three-dimensional convection-resolving simulations, which has made it seem that the physics of the RO state requires simulations that can explicitly resolve the three-dimensional interaction of cloudy plumes and their environment. We demonstrate that RO states also exist in single-column simulations of radiative-convective equilibrium with parameterized convection, albeit in a different surface temperature range and with much longer storm-free intervals., Comment: 30 pages, 9 figures, and 1 table

Published
2023

7. Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

Author

Bradfeld, Jonathan P., Kember, Rachel L., Ulrich, Anna, Balkhiyarova, Zhanna, Alyass, Akram, Aris, Izzuddin M., Bell, Joshua A., Broadaway, K. Alaine, Chen, Zhanghua, Chai, Jin-Fang, Davies, Neil M., Fernandez-Orth, Dietmar, Bustamante, Mariona, Fore, Ruby, Ganguli, Amitavo, Heiskala, Anni, Hottenga, Jouke-Jan, Íñiguez, Carmen, Kobes, Sayuko, Leinonen, Jaakko, Lowry, Estelle, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Pitkänen, Niina, Schnurr, Theresia M., Have, Christian Theil, Strachan, David P., Thiering, Elisabeth, Vogelezang, Suzanne, Wade, Kaitlin H., Wang, Carol A., Wong, Andrew, Holm, Louise Aas, Chesi, Alessandra, Choong, Catherine, Cruz, Miguel, Elliott, Paul, Franks, Steve, Frithiof-Bøjsøe, Christine, Gauderman, W. James, Glessner, Joseph T., Gilsanz, Vicente, Griesman, Kendra, Hanson, Robert L., Kaakinen, Marika, Kalkwarf, Heidi, Kelly, Andrea, Kindler, Joseph, Kähönen, Mika, Lanca, Carla, Lappe, Joan, Lee, Nanette R., McCormack, Shana, Mentch, Frank D., Mitchell, Jonathan A., Mononen, Nina, Niinikoski, Harri, Oken, Emily, Pahkala, Katja, Sim, Xueling, Teo, Yik-Ying, Baier, Leslie J., van Beijsterveldt, Toos, Adair, Linda S., Boomsma, Dorret I., de Geus, Eco, Guxens, Mònica, Eriksson, Johan G., Felix, Janine F., Gilliland, Frank D., Hansen, Torben, Hardy, Rebecca, Hivert, Marie-France, Holm, Jens-Christian, Jaddoe, Vincent W. V., Järvelin, Marjo-Riitta, Lehtimäki, Terho, Mackey, David A., Meyre, David, Mohlke, Karen L., Mykkänen, Juha, Oberfeld, Sharon, Pennell, Craig E., Perry, John R. B., Raitakari, Olli, Rivadeneira, Fernando, Saw, Seang-Mei, Sebert, Sylvain, Shepherd, John A., Standl, Marie, Sørensen, Thorkild I. A., Timpson, Nicholas J., Torrent, Maties, Willemsen, Gonneke, Hypponen, Elina, Power, Chris, McCarthy, Mark I., Freathy, Rachel M., Widén, Elisabeth, Hakonarson, Hakon, Prokopenko, Inga, Voight, Benjamin F., Zemel, Babette S., Grant, Struan F. A., and Cousminer, Diana L.

Published
2024
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8. From little things big things grow: enhancement of an acoustic telemetry network to monitor broad-scale movements of marine species along Australia’s east coast

Author

Barnett, Adam, Jaine, Fabrice R. A., Bierwagen, Stacy L., Lubitz, Nicolas, Abrantes, Kátya, Heupel, Michelle R., Harcourt, Rob, Huveneers, Charlie, Dwyer, Ross G., Udyawer, Vinay, Simpfendorfer, Colin A., Miller, Ingo B., Scott-Holland, Tracey, Kilpatrick, Carley S., Williams, Samuel M, Smith, Daniel, Dudgeon, Christine L., Hoey, Andrew S., Fitzpatrick, Richard, Osborne, Felicity E., Smoothey, Amy F., Butcher, Paul A., Sheaves, Marcus, Fisher, Eric E., Svaikauskas, Mark, Ellis, Megan, Kanno, Shiori, Cresswell, Benjamin J., Flint, Nicole, Armstrong, Asia O., Townsend, Kathy A., Mitchell, Jonathan D., Campbell, Matthew, Peddemors, Victor M., Gustafson, Johan A., and Currey-Randall, Leanne M.

Published
2024
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10. Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

Author

Bradfield, Jonathan P., Kember, Rachel L., Ulrich, Anna, Balkhiyarova, Zhanna, Alyass, Akram, Aris, Izzuddin M., Bell, Joshua A., Broadaway, K. Alaine, Chen, Zhanghua, Chai, Jin-Fang, Davies, Neil M., Fernandez-Orth, Dietmar, Bustamante, Mariona, Fore, Ruby, Ganguli, Amitavo, Heiskala, Anni, Hottenga, Jouke-Jan, Íñiguez, Carmen, Kobes, Sayuko, Leinonen, Jaakko, Lowry, Estelle, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Pitkänen, Niina, Schnurr, Theresia M., Have, Christian Theil, Strachan, David P., Thiering, Elisabeth, Vogelezang, Suzanne, Wade, Kaitlin H., Wang, Carol A., Wong, Andrew, Holm, Louise Aas, Chesi, Alessandra, Choong, Catherine, Cruz, Miguel, Elliott, Paul, Franks, Steve, Frithioff-Bøjsøe, Christine, Gauderman, W. James, Glessner, Joseph T., Gilsanz, Vicente, Griesman, Kendra, Hanson, Robert L., Kaakinen, Marika, Kalkwarf, Heidi, Kelly, Andrea, Kindler, Joseph, Kähönen, Mika, Lanca, Carla, Lappe, Joan, Lee, Nanette R., McCormack, Shana, Mentch, Frank D., Mitchell, Jonathan A., Mononen, Nina, Niinikoski, Harri, Oken, Emily, Pahkala, Katja, Sim, Xueling, Teo, Yik-Ying, Baier, Leslie J., van Beijsterveldt, Toos, Adair, Linda S., Boomsma, Dorret I., de Geus, Eco, Guxens, Mònica, Eriksson, Johan G., Felix, Janine F., Gilliland, Frank D., Biobank, Penn Medicine, Hansen, Torben, Hardy, Rebecca, Hivert, Marie-France, Holm, Jens-Christian, Jaddoe, Vincent W. V., Järvelin, Marjo-Riitta, Lehtimäki, Terho, Mackey, David A., Meyre, David, Mohlke, Karen L., Mykkänen, Juha, Oberfield, Sharon, Pennell, Craig E., Perry, John R. B., Raitakari, Olli, Rivadeneira, Fernando, Saw, Seang-Mei, Sebert, Sylvain, Shepherd, John A., Standl, Marie, Sørensen, Thorkild I. A., Timpson, Nicholas J., Torrent, Maties, Willemsen, Gonneke, Hypponen, Elina, Power, Chris, McCarthy, Mark I., Freathy, Rachel M., Widén, Elisabeth, Hakonarson, Hakon, Prokopenko, Inga, Voight, Benjamin F., Zemel, Babette S., Grant, Struan F. A., and Cousminer, Diana L.

Published
2024
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11. Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

Author

Sosinsky, Alona, Ambrose, John, Cross, William, Turnbull, Clare, Henderson, Shirley, Jones, Louise, Hamblin, Angela, Arumugam, Prabhu, Chan, Georgia, Chubb, Daniel, Noyvert, Boris, Mitchell, Jonathan, Walker, Susan, Bowman, Katy, Pasko, Dorota, Buongermino Pereira, Marianna, Volkova, Nadezda, Rueda-Martin, Antonio, Perez-Gil, Daniel, Lopez, Javier, Pullinger, John, Siddiq, Afshan, Zainy, Tala, Choudhury, Tasnim, Yavorska, Olena, Fowler, Tom, Bentley, David, Kingsley, Clare, Hing, Sandra, Deans, Zandra, Rendon, Augusto, Hill, Sue, Caulfield, Mark, and Murugaesu, Nirupa

Published
2024
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12. A generalized AIC for models with singularities and boundaries

Author

Mitchell, Jonathan D., Allman, Elizabeth S., and Rhodes, John A.

Subjects
Mathematics - Statistics Theory, Quantitative Biology - Quantitative Methods, Primary 62B10, secondary 92D15
Abstract

The Akaike information criterion (AIC) is a common tool for model selection. It is frequently used in violation of regularity conditions at parameter space singularities and boundaries. The expected AIC is generally not asymptotically equivalent to its target at singularities and boundaries, and convergence to the target at nearby parameter points may be slow. We develop a generalized AIC for candidate models with or without singularities and boundaries. We show that the expectation of this generalized form converges everywhere in the parameter space, and its convergence can be faster than that of the AIC. We illustrate the generalized AIC on example models from phylogenomics, showing that it can outperform the AIC and gives rise to an interpolated effective number of model parameters, which can differ substantially from the number of parameters near singularities and boundaries. We outline methods for estimating the often unknown generating parameter and bias correction term of the generalized AIC., Comment: 21 pages, 5 figures

Published
2022

13. Learning Probabilistic Models from Generator Latent Spaces with Hat EBM

Author

Hill, Mitch, Nijkamp, Erik, Mitchell, Jonathan, Pang, Bo, and Zhu, Song-Chun

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

This work proposes a method for using any generator network as the foundation of an Energy-Based Model (EBM). Our formulation posits that observed images are the sum of unobserved latent variables passed through the generator network and a residual random variable that spans the gap between the generator output and the image manifold. One can then define an EBM that includes the generator as part of its forward pass, which we call the Hat EBM. The model can be trained without inferring the latent variables of the observed data or calculating the generator Jacobian determinant. This enables explicit probabilistic modeling of the output distribution of any type of generator network. Experiments show strong performance of the proposed method on (1) unconditional ImageNet synthesis at 128x128 resolution, (2) refining the output of existing generators, and (3) learning EBMs that incorporate non-probabilistic generators. Code and pretrained models to reproduce our results are available at https://github.com/point0bar1/hat-ebm., Comment: NeurIPS 2022 camera ready

Published
2022

14. Diet high in linoleic acid dysregulates the intestinal endocannabinoid system and increases susceptibility to colitis in Mice.

Author

Deol, Poonamjot, Ruegger, Paul, Logan, Geoffrey D, Shawki, Ali, Li, Jiang, Mitchell, Jonathan D, Yu, Jacqueline, Piamthai, Varadh, Radi, Sarah H, Hasnain, Sana, Borkowski, Kamil, Newman, John W, McCole, Declan F, Nair, Meera G, Hsiao, Ansel, Borneman, James, and Sladek, Frances M

Subjects
Animals, Humans, Mice, Colitis, Inflammatory Bowel Diseases, Soybean Oil, Linoleic Acid, Endocannabinoids, Diet, High-Fat, Gastrointestinal Microbiome, HNF4α, IBD, PUFAs, adherent invasive E.Coli, epithelial barrier function, gut microbiome, metabolomics, olive oil, oxylipins, soybean oil, Complementary and Integrative Health, Crohn's Disease, Inflammatory Bowel Disease, Prevention, Nutrition, Autoimmune Disease, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, adherent invasive, E .Coli, HNF4 alpha, Microbiology
Abstract

Inflammatory bowel disease (IBD) is a multifactorial disease with increasing incidence in the U.S. suggesting that environmental factors, including diet, are involved. It has been suggested that excessive consumption of linoleic acid (LA, C18:2 omega-6), which must be obtained from the diet, may promote the development of IBD in humans. To demonstrate a causal link between LA and IBD, we show that a high fat diet (HFD) based on soybean oil (SO), which is comprised of ~55% LA, increases susceptibility to colitis in several models, including IBD-susceptible IL10 knockout mice. This effect was not observed with low-LA HFDs derived from genetically modified soybean oil or olive oil. The conventional SO HFD causes classical IBD symptoms including immune dysfunction, increased intestinal epithelial barrier permeability, and disruption of the balance of isoforms from the IBD susceptibility gene Hepatocyte Nuclear Factor 4α (HNF4α). The SO HFD causes gut dysbiosis, including increased abundance of an endogenous adherent invasive Escherichia coli (AIEC), which can use LA as a carbon source. Metabolomic analysis shows that in the mouse gut, even in the absence of bacteria, the presence of soybean oil increases levels of LA, oxylipins and prostaglandins. Many compounds in the endocannabinoid system, which are protective against IBD, are decreased by SO both in vivo and in vitro. These results indicate that a high LA diet increases susceptibility to colitis via microbial and host-initiated pathways involving alterations in the balance of bioactive metabolites of omega-6 and omega-3 polyunsaturated fatty acids, as well as HNF4α isoforms.

Published
2023

15. Rare variant associations with plasma protein levels in the UK Biobank

Author

Dhindsa, Ryan S., Burren, Oliver S., Sun, Benjamin B., Prins, Bram P., Matelska, Dorota, Wheeler, Eleanor, Mitchell, Jonathan, Oerton, Erin, Hristova, Ventzislava A., Smith, Katherine R., Carss, Keren, Wasilewski, Sebastian, Harper, Andrew R., Paul, Dirk S., Fabre, Margarete A., Runz, Heiko, Viollet, Coralie, Challis, Benjamin, Platt, Adam, Vitsios, Dimitrios, Ashley, Euan A., Whelan, Christopher D., Pangalos, Menelas N., Wang, Quanli, and Petrovski, Slavé

Published
2023
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16. EBM Life Cycle: MCMC Strategies for Synthesis, Defense, and Density Modeling

Author

Hill, Mitch, Mitchell, Jonathan, Chen, Chu, Du, Yuan, Shah, Mubarak, and Zhu, Song-Chun

Subjects
Statistics - Machine Learning, Computer Science - Machine Learning
Abstract

This work presents strategies to learn an Energy-Based Model (EBM) according to the desired length of its MCMC sampling trajectories. MCMC trajectories of different lengths correspond to models with different purposes. Our experiments cover three different trajectory magnitudes and learning outcomes: 1) shortrun sampling for image generation; 2) midrun sampling for classifier-agnostic adversarial defense; and 3) longrun sampling for principled modeling of image probability densities. To achieve these outcomes, we introduce three novel methods of MCMC initialization for negative samples used in Maximum Likelihood (ML) learning. With standard network architectures and an unaltered ML objective, our MCMC initialization methods alone enable significant performance gains across the three applications that we investigate. Our results include state-of-the-art FID scores for unnormalized image densities on the CIFAR-10 and ImageNet datasets; state-of-the-art adversarial defense on CIFAR-10 among purification methods and the first EBM defense on ImageNet; and scalable techniques for learning valid probability densities. Code for this project can be found at https://github.com/point0bar1/ebm-life-cycle.

Published
2022

17. The Tree of Blobs of a Species Network: Identifiability under the Coalescent

Author

Allman, Elizabeth S., Baños, Hector, Mitchell, Jonathan D., and Rhodes, John A.

Subjects
Quantitative Biology - Populations and Evolution, Mathematics - Statistics Theory, 92D15
Abstract

Inference of species networks from genomic data under the Network Multispecies Coalescent Model is currently severely limited by heavy computational demands. It also remains unclear how complicated networks can be for consistent inference to be possible. As a step toward inferring a general species network, this work considers its tree of blobs, in which non-cut edges are contracted to nodes, so only tree-like relationships between the taxa are shown. An identifiability theorem, that most features of the unrooted tree of blobs can be determined from the distribution of gene quartet topologies, is established. This depends upon an analysis of gene quartet concordance factors under the model, together with a new combinatorial inference rule. The arguments for this theoretical result suggest a practical algorithm for tree of blobs inference, to be fully developed in a subsequent work., Comment: 18 pages, 8 figures

Published
2022

18. GPS-based activity space exposure to greenness and walkability is associated with increased accelerometer-based physical activity.

Author

Marquet, Oriol, Hirsch, Jana, Kerr, Jacqueline, Jankowska, Marta, Mitchell, Jonathan, Hart, Jaime, Laden, Francine, Hipp, J, and James, Peter

Subjects
Accelerometry, Adult, Built Environment, Exercise, Female, Geographic Information Systems, Humans, Residence Characteristics
Abstract

INTRODUCTION: Built and natural environments may provide opportunities for physical activity. However, studies are limited by primarily using residential addresses to define exposure and self-report to measure physical activity. We quantified associations between global positioning systems (GPS)-based activity space measures of environmental exposure and accelerometer-based physical activity. METHODS: Using a nationwide sample of working female adults (N = 354), we obtained seven days of GPS and accelerometry data. We created Daily Path Area activity spaces using GPS data and linked these activity spaces to spatial datasets on walkability (EPA Smart Location Database at the Census block group level) and greenness (satellite vegetation at 250 m resolution). We utilized generalized additive models to examine nonlinear associations between activity space exposures and accelerometer-derived physical activity outcomes adjusted for demographic characteristics, socioeconomic factors, and self-rated health. RESULTS: Higher activity space walkability was associated with higher levels of moderate-vigorous physical activity, and higher activity space greenness was associated with greater numbers of steps per week. No strong relationships were observed for sedentary behavior or light physical activity. Highest levels of moderate-vigorous physical activity were observed for participants with both high walkability and high greenness in their activity spaces. CONCLUSION: This study contributes evidence that higher levels of physical activity occur in environments with more dense, diverse, and well-connected built environments, and with higher amounts of vegetation. These data suggest that urban planners, landscape architects, and policy makers should implement and evaluate environmental interventions to encourage higher levels of physical activity.

Published
2022

19. Toward a unified theory for the Hadley cell descending and ascending edges

Author

Hill, Spencer A., Bordoni, Simona, and Mitchell, Jonathan L.

Subjects
Physics - Atmospheric and Oceanic Physics
Abstract

We present theories for the latitudinal extents of both Hadley cells throughout the annual cycle by combining our recent scaling for the ascending edge latitude (Hill et al. 2021) with the uniform Rossby number (Ro), baroclinic instability-based theory for the poleward, descending edge latitudes of Kang and Lu 2012. The resulting analytic expressions for all three Hadley cell edges are predictive except for diagnosed values of Ro and two proportionality constants. The theory captures the climatological annual cycle of the ascending and descending edges in an Earth-like simulation in an idealized aquaplanet general circulation model (GCM), provided the descending edge prediction is lagged by one month. In simulations in this and two other idealized GCMs with varied planetary rotation rate ($\Omega$), the winter, descending edge of the solsticial, cross-equatorial Hadley cell scales approximately as $\Omega^{-1/2}$ and the summer, ascending edge as $\Omega^{-2/3}$, both in accordance with our theory., Comment: 11 pages, 5 figures, 1 table, submitted to Journal of the Atmospheric Sciences

Published
2021

21. Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.

Author

Patel, Maya, McCormick, Ashley, Tamaroff, Jaclyn, Dunn, Julia, Mitchell, Jonathan, Lin, Kimberly, Farmer, Jennifer, Rummey, Christian, Perlman, Susan, Delatycki, Martin, Wilmot, George, Mathews, Katherine, Yoon, Grace, Hoyle, Joseph, Corti, Manuela, Subramony, S, Zesiewicz, Theresa, Lynch, David, and McCormack, Shana

Abstract

BACKGROUND AND OBJECTIVES: Body mass index (BMI) and height are important indices of health. We tested the association between these outcomes and clinical characteristics in Friedreich ataxia (FRDA), a progressive neuromuscular disorder. METHODS: Participants (N = 961) were enrolled in a prospective natural history study (Friedreich Ataxia Clinical Outcome Measure Study). Age- and sex-specific BMI and height Z-scores were calculated using CDC 2000 references for participants younger than 18 years. For adults aged 18 years or older, height Z-scores were also calculated, and absolute BMI was reported. Univariate and multivariate linear regression analyses tested the associations between exposures, covariates, and BMI or height measured at the baseline visit. In children, the superimposition by translation and rotation analysis method was used to compare linear growth trajectories between FRDA and a healthy reference cohort, the Bone Mineral Density in Childhood Study (n = 1,535 used for analysis). RESULTS: Median age at the baseline was 20 years (IQR, 13-33 years); 49% (n = 475) were women. A substantial proportion of children (17%) were underweight (BMI-Z < fifth percentile), and female sex was associated with lower BMI-Z (β = -0.34, p < 0.05). In adults, older age was associated with higher BMI (β = 0.09, p < 0.05). Regarding height, in children, older age (β -0.06, p < 0.05) and worse modified Friedreich Ataxia Rating Scale (mFARS) scores (β = -1.05 for fourth quartile vs first quartile, p < 0.01) were associated with shorter stature. In girls, the magnitude of the pubertal growth spurt was less, and in boys, the pubertal growth spurt occurred later (p < 0.001 for both) than in a healthy reference cohort. In adults, in unadjusted analyses, both earlier age of FRDA symptom onset (=0.09, p < 0.05) and longer guanine-adenine-adenine repeat length (shorter of the 2 GAA repeats, β = -0.12, p < 0.01) were associated with shorter stature. Both adults and children with higher mFARS scores and/or who were nonambulatory were less likely to have height and weight measurements recorded at clinical visits. DISCUSSION: FRDA affects both weight gain and linear growth. These insights will inform assessments of affected individuals in both research and clinical settings.

Published
2021

22. Solsticial Hadley Cell ascending edge theory from supercriticality

Author

Hill, Spencer A., Bordoni, Simona, and Mitchell, Jonathan L.

Subjects
Physics - Atmospheric and Oceanic Physics
Abstract

How far the Hadley circulation's ascending branch extends into the summer hemisphere is a fundamental but incompletely understood characteristic of Earth's climate. Here, we present a predictive, analytical theory for this ascending edge latitude based on the extent of supercritical forcing. Supercriticality sets the minimum extent of a large-scale circulation based on the angular momentum and absolute vorticity distributions of the hypothetical state were the circulation absent. We explicitly simulate this latitude-by-latitude radiative-convective equilibrium (RCE) state. Its depth-averaged temperature profile is suitably captured by a simple analytical approximation that increases linearly with $\sin\varphi$, where $\varphi$ is latitude, from the winter to the summer pole. This, in turn, yields a one-third power-law scaling of the supercritical forcing extent with the thermal Rossby number. In moist and dry idealized GCM simulations under solsticial forcing performed with a wide range of planetary rotation rates, the ascending edge latitudes largely behave according to this scaling., Comment: 15 pages, 7 figures, revised for Journal of the Atmospheric Sciences

Published
2020
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23. Sufficient Sleep Duration in Autistic Children and the Role of Physical Activity

Author

Elkhatib Smidt, Stacey D., Gooneratne, Nalaka, Brodkin, Edward S., Bucan, Maja, and Mitchell, Jonathan A.

Abstract

Emerging evidence suggests that physical activity may be associated with improved sleep in autistic children. We aimed to determine whether physical activity associated with sufficient sleep duration in children and whether this association was modified by reported autism spectrum disorder (ASD) status. We analyzed existing data of children 6-17 years old whose caregivers completed the 2018 National Survey of Children's Health (nonautistic N = 20,845; ASD N = 681). Logistic regression determined whether physical activity (days active in the past week) associated with sufficient sleep duration. Physical activity-by-ASD interactions were included to determine whether the association differed for autistic children. Physical activity-by-ASD-by-sex and physical activity-by-ASD-by-age-group interactions were also modeled. Physical activity was associated with increased odds of sufficient sleep duration (e.g. 0 days vs 4-6 days: odds ratio (OR) = 1.85; 95% confidence interval (CI): 1.48-2.32). We did not observe an overall statistically significant interaction between physical activity and reported ASD status; however, the positive association between physical activity and sufficient sleep duration was weaker in autistic children, especially those with more severe ASD, female autistic children, and autistic children ages 6-12 years old. In conclusion, physical activity is a promising approach to improve sufficient sleep duration but with nuanced findings in autistic children.

Published
2022
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25. Stochastic Security: Adversarial Defense Using Long-Run Dynamics of Energy-Based Models

Author

Hill, Mitch, Mitchell, Jonathan, and Zhu, Song-Chun

Subjects
Statistics - Machine Learning, Computer Science - Cryptography and Security, Computer Science - Machine Learning
Abstract

The vulnerability of deep networks to adversarial attacks is a central problem for deep learning from the perspective of both cognition and security. The current most successful defense method is to train a classifier using adversarial images created during learning. Another defense approach involves transformation or purification of the original input to remove adversarial signals before the image is classified. We focus on defending naturally-trained classifiers using Markov Chain Monte Carlo (MCMC) sampling with an Energy-Based Model (EBM) for adversarial purification. In contrast to adversarial training, our approach is intended to secure pre-existing and highly vulnerable classifiers. The memoryless behavior of long-run MCMC sampling will eventually remove adversarial signals, while metastable behavior preserves consistent appearance of MCMC samples after many steps to allow accurate long-run prediction. Balancing these factors can lead to effective purification and robust classification. We evaluate adversarial defense with an EBM using the strongest known attacks against purification. Our contributions are 1) an improved method for training EBM's with realistic long-run MCMC samples, 2) an Expectation-Over-Transformation (EOT) defense that resolves theoretical ambiguities for stochastic defenses and from which the EOT attack naturally follows, and 3) state-of-the-art adversarial defense for naturally-trained classifiers and competitive defense compared to adversarially-trained classifiers on Cifar-10, SVHN, and Cifar-100. Code and pre-trained models are available at https://github.com/point0bar1/ebm-defense., Comment: ICLR 2021

Published
2020

26. Constraints from invariant subtropical vertical velocities on the scalings of Hadley cell strength and downdraft width with rotation rate

Author

Mitchell, Jonathan L. and Hill, Spencer A.

Subjects
Physics - Atmospheric and Oceanic Physics, Astrophysics - Earth and Planetary Astrophysics, Physics - Fluid Dynamics
Abstract

Weak-temperature-gradient influences from the tropics and quasigeostrophic influences from the extratropics plausibly constrain the subtropical-mean static stability in terrestrial atmospheres. Because mean descent acting on this static stability is a leading-order term in the thermodynamic balance, a state-invariant static stability would impose constraints on the Hadley cells, which this paper explores in simulations of varying planetary rotation rate. If downdraft-averaged effective heating (the sum of diabatic heating and eddy heat flux convergence) too is invariant, so must be vertical velocity -- an "omega governor." In that case, the Hadley circulation overturning strength and downdraft width must scale identically -- the cell can strengthen only by widening or weaken only by narrowing. Simulations in two idealized, dry GCMs with a wide range of planetary rotation rates exhibit nearly unchanging downdraft-averaged static stability, effective heating, and vertical velocity, as well as nearly identical scalings of the Hadley cell downdraft width and strength. In one, eddy stresses set this scaling directly (the Rossby number remains small); in the other, eddy stress and bulk Rossby number changes compensate to yield the same, ({\sim}\Omega^{-1/3}) scaling. The consistency of this power law for cell width and strength variations may indicate a common driver, and we speculate that Ekman pumping could be the mechanism responsible for this behavior. Extending to moist atmospheres, in an idealized aquaplanet GCM the subtropical static stability is also insensitive to rotation rate but the effective heating and vertical velocity are not., Comment: 20 pages (6200 words) main text, 12 figures

Published
2019

27. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo

Published
2023
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29. The autoimmune susceptibility gene, PTPN2, restricts expansion of a novel mouse adherent-invasive E. coli

Author

Shawki, Ali, Ramirez, Rocio, Spalinger, Marianne R, Ruegger, Paul M, Sayoc-Becerra, Anica, Santos, Alina N, Chatterjee, Pritha, Canale, Vinicius, Mitchell, Jonathan D, Macbeth, John C, Gries, Casey M, Tremblay, Michel L, Hsiao, Ansel, Borneman, James, and McCole, Declan F

Subjects
Biodefense, Vaccine Related, Infectious Diseases, Digestive Diseases, Prevention, Genetics, Crohn's Disease, Inflammatory Bowel Disease, Emerging Infectious Diseases, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Animals, Bacterial Adhesion, Escherichia coli, Escherichia coli Infections, Female, Gastrointestinal Microbiome, Genetic Predisposition to Disease, Humans, Inflammatory Bowel Diseases, Male, Mice, Mice, Inbred BALB C, Mice, Inbred C57BL, Mice, Knockout, Protein Tyrosine Phosphatase, Non-Receptor Type 2, AIEC, Caco-2, colitis, epithelial, inflammatory bowel disease, LF82, macrophage, microbiome, Microbiology
Abstract

Inflammatory bowel disease (IBD) pathogenesis involves significant contributions from genetic and environmental factors. Loss-of-function single-nucleotide polymorphisms (SNPs) in the protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene increase IBD risk and are associated with altered microbiome population dynamics in IBD. Expansion of intestinal pathobionts, such as adherent-invasive E. coli (AIEC), is strongly implicated in IBD pathogenesis as AIEC increases pro-inflammatory cytokine production and alters tight junction protein regulation - suggesting a potential mechanism of pathogen-induced barrier dysfunction and inflammation. We aimed to determine if PTPN2 deficiency alters intestinal microbiome composition to promote expansion of specific bacteria with pathogenic properties. In mice constitutively lacking Ptpn2, we identified increased abundance of a novel mouse AIEC (mAIEC) that showed similar adherence and invasion of intestinal epithelial cells, but greater survival in macrophages, to the IBD-associated AIEC, LF82. Furthermore, mAIEC caused disease when administered to mice lacking segmented-filamentous bacteria (SFB), and in germ-free mice but only when reconstituted with a microbiome, thus supporting its classification as a pathobiont, not a pathogen. Moreover, mAIEC infection increased the severity of, and prevented recovery from, induced colitis. Although mAIEC genome sequence analysis showed >90% similarity to LF82, mAIEC contained putative virulence genes with >50% difference in gene/protein identities from LF82 indicating potentially distinct genetic features of mAIEC. We show for the first time that an IBD susceptibility gene, PTPN2, modulates the gut microbiome to protect against a novel pathobiont. This study generates new insights into gene-environment-microbiome interactions in IBD and identifies a new model to study AIEC-host interactions.

Published
2020

31. Associations of bedroom PM2.5, CO2, temperature, humidity, and noise with sleep: An observational actigraphy study

Author

Basner, Mathias, Smith, Michael G., Jones, Christopher W., Ecker, Adrian J., Howard, Kia, Schneller, Victoria, Cordoza, Makayla, Kaizi-Lutu, Marc, Park-Chavar, Sierra, Stahn, Alexander C., Dinges, David F., Shou, Haochang, Mitchell, Jonathan A., Bhatnagar, Aruni, Smith, Ted, Smith, Allison E., Stopforth, Cameron K., Yeager, Ray, and Keith, Rachel J.

Published
2023
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33. Simulating Venus' Cloud Level Dynamics Using a Middle Atmosphere General Circulation Model

Author

Parish, Helen F. and Mitchell, Jonathan L.

Subjects
Astrophysics - Earth and Planetary Astrophysics
Abstract

The atmosphere of Venus is characterized by strong superrotation, in which the wind velocities at cloud heights are around 60 times faster than the surface rotation rate. The reasons for this strong superrotation are still not well understood. Motions in the atmosphere below the thick cloud deck are hard to determine remotely and in-situ measurements of the circulation below 40 km altitude are scarce. No model to date has been able to simulate superrotating winds with magnitudes comparable with those measured by entry probes, in the dense atmosphere between the surface and the clouds. However, important information on the dynamics and circulation of Venus' atmosphere can be determined by studying the atmosphere at cloud levels, where there are significantly more measurements than in the sub-cloud region, including the many recent observations made during the Venus Express and Akatsuki missions. In this work we describe a new Venus Middle atmosphere general circulation Model (VMM) to study the dynamics of the atmosphere at cloud altitudes. The model simulates the atmosphere from just below cloud deck to around 95 km altitude. We present simulations using the VMM with a simplified Newtonian cooling radiation scheme. Sensitivity studies have been performed to determine the most appropriate values for model parameters and the model has been validated by comparison with observations, including those from Venus Express and Akatsuki. The validated model provides some constraints on parameters which are poorly measured close to the boundary such as the mean winds and temperatures, and provides a basis for further investigations of the dynamics of Venus' cloud-level atmosphere. In future studies we will also investigate the influence of atmospheric waves, such as Kelvin and Rossby waves, to determine the role they play in generating the poorly-understood cloud-level structure at all latitudes., Comment: Updated references

Published
2018

34. Axisymmetric constraints on cross-equatorial Hadley cell extent

Author

Hill, Spencer, Bordoni, Simona, and Mitchell, Jonathan L.

Subjects
Physics - Atmospheric and Oceanic Physics
Abstract

We consider the relevance of known constraints from each of Hide's theorem, the angular momentum conserving (AMC) model, and the equal-area model on the extent of cross-equatorial Hadley cells. These theories respectively posit that a Hadley circulation must span: all latitudes where the radiative convective equilibrium (RCE) absolute angular momentum ($M_\mathrm{rce}$) satisfies $M_\mathrm{rce}>\Omega a^2$ or $M_\mathrm{rce}<0$ or where the RCE absolute vorticity ($\eta_\mathrm{rce}$) satisfies $f\eta_\mathrm{rce}<0$; all latitudes where the RCE zonal wind exceeds the AMC zonal wind; and over a range such that depth-averaged potential temperature is continuous and that energy is conserved. The AMC model requires knowledge of the ascent latitude $\varphi_\mathrm{a}$, which need not equal the RCE forcing maximum latitude $\varphi_\mathrm{m}$. Whatever the value of $\varphi_\mathrm{a}$, we demonstrate that an AMC cell must extend at least as far into the winter hemisphere as the summer hemisphere. The equal-area model predicts $\varphi_\mathrm{a}$, always placing it poleward of $\varphi_\mathrm{m}$. As $\varphi_\mathrm{m}$ is moved poleward (at a given thermal Rossby number), the equal-area predicted Hadley circulation becomes implausibly large, while both $\varphi_\mathrm{m}$ and $\varphi_\mathrm{a}$ become increasingly displaced poleward of the minimal cell extent based on Hide's theorem (i.e. of supercritical forcing). In an idealized dry general circulation model, cross-equatorial Hadley cells are generated, some spanning nearly pole-to-pole. All homogenize angular momentum imperfectly, are roughly symmetric in extent about the equator, and appear in extent controlled by the span of supercritical forcing., Comment: 18 pages, 9 figures, published

Published
2018
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39. Value chain analysis in pro-poor tourism : towards a critical understanding of the contribution of tourism to poverty reduction

Author

Mitchell, Jonathan Guy Buxton and Novelli, Marina

Subjects
796
Abstract

Each year over half a billion tourists cross an international border and visit a developing country. Can this huge movement of some of the richest people visiting some of the most economically fragile countries have a positive impact on the lives of low-income people living there? Addressing this question has been an enduring aim of the 'tourism and development' field over the past thirty years. This PhD by publication is based upon the author's research applying value chain analysis in pro-poor tourism and the resonance of this work with academics, donors, industry and Southern governments. The author's contribution was the conceptual, methodological and empirical approaches to pro-poor tourism. Conceptually, this involved introducing market development approaches to the 'tourism and development' discourse together with a more nuanced understanding of pro-poor growth in the context of private sector development. Methodologically, the author advanced the value chain framework - an established approach in agricultural and industrial sectors - to be applied systematically in the tourist sector for the first time. The value chain framework itself was also developed to more explicitly take account of developmental concerns. Significant effort was made to use this framework to move beyond an analysis of the current tourism value chain to provide an analytical basis to propose pro-poor change - and train others in the application of this approach. The author then employed this new approach to collect and analyse empirical data from diverse destinations in ten developing countries. From this analysis, some preliminary answers to the question above begun to emerge, and these findings were used to advocate for change in tourism policy and practice in economically fragile countries. Making full use of open source platforms to disseminate findings to a wide range of stakeholders, the author used the empirical data generated to contribute to tourism and development debates. Evidence is presented that the authors work resonated amongst diverse stakeholders, from development agencies to Southern Governments, tourism corporates and also academic researchers. This thesis provides an overview of my conceptual contribution to pro-poor tourism and questions the theoretical basis of critics of this approach. The methodology for measuring the impact of tourism is explained and the rationale for using tourism value chains is outlined. The question of research uptake - did any of this work have any discernible impact over the past decade - is then critically analysed.

Published
2019

42. Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Author

Mitchell, Jonathan, primary, Camacho, Niedzica, additional, Shea, Patrick, additional, Stopsack, Konrad, additional, Joseph, Vijai, additional, Burren, Oliver Simon, additional, Dhindsa, Ryan, additional, Nag, Abhishek, additional, Berchuck, Jacob, additional, O'Neill, Amanda, additional, Abbasi, Ali, additional, Zoghbi, Anthony, additional, Alegre-Diaz, Jesus, additional, Kuri-Morales, Pablo, additional, Berumen, Jaime, additional, Tapia-Conyer, Roberto, additional, Emberson, Jonathan, additional, Torres, Jason, additional, Collins, Rory, additional, Wang, Quanli, additional, Goldstein, David, additional, Matakidou, Athena, additional, Haefliger, Carolina, additional, Anderson-Dring, Lauren, additional, March, Ruth, additional, Jobanputra, Vaidehi, additional, Dougherty, Brian, additional, Carss, Keren, additional, Petrovski, Slave, additional, Kantoff, Philip, additional, Offit, Kenneth, additional, Mucci, Lorelei, additional, Pomerantz, Mark, additional, and Fabre, Margarete, additional

Published
2024
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43. Bounding Box Embedding for Single Shot Person Instance Segmentation

Author

Richeimer, Jacob and Mitchell, Jonathan

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

We present a bottom-up approach for the task of object instance segmentation using a single-shot model. The proposed model employs a fully convolutional network which is trained to predict class-wise segmentation masks as well as the bounding boxes of the object instances to which each pixel belongs. This allows us to group object pixels into individual instances. Our network architecture is based on the DeepLabv3+ model, and requires only minimal extra computation to achieve pixel-wise instance assignments. We apply our method to the task of person instance segmentation, a common task relevant to many applications. We train our model with COCO data and report competitive results for the person class in the COCO instance segmentation task.

Published
2018

44. Hypothesis testing near singularities and boundaries

Author

Mitchell, Jonathan D., Allman, Elizabeth S., and Rhodes, John A.

Subjects
Mathematics - Statistics Theory, Quantitative Biology - Populations and Evolution, 62E17, 92D15
Abstract

The likelihood ratio statistic, with its asymptotic $\chi^2$ distribution at regular model points, is often used for hypothesis testing. At model singularities and boundaries, however, the asymptotic distribution may not be $\chi^2$, as highlighted by recent work of Drton. Indeed, poor behavior of a $\chi^2$ for testing near singularities and boundaries is apparent in simulations, and can lead to conservative or anti-conservative tests. Here we develop a new distribution designed for use in hypothesis testing near singularities and boundaries, which asymptotically agrees with that of the likelihood ratio statistic. For two example trinomial models, arising in the context of inference of evolutionary trees, we show the new distributions outperform a $\chi^2$., Comment: 32 pages, 12 figures

Published
2018

45. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Author

Qian, Frank, Wang, Shengfeng, Mitchell, Jonathan, McGuffog, Lesley, Barrowdale, Daniel, Leslie, Goska, Oosterwijk, Jan C, Chung, Wendy K, Evans, D Gareth, Engel, Christoph, Kast, Karin, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barouk-Simonet, Emmanuelle, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Claes, Kathleen BM, Margriet Collée, J, Couch, Fergus J, Coupier, Isabelle, Daly, Mary B, Davidson, Rosemarie, Diez, Orland, Domchek, Susan M, Donaldson, Alan, Dorfling, Cecilia M, Eeles, Ros, Feliubadaló, Lidia, Foretova, Lenka, Fowler, Jeffrey, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Ángel, Jakubowska, Anna, Kaczmarek, Katarzyna, Kang, Eunyoung, Karlan, Beth Y, Kets, Carolien M, Kim, Sung-Won, Kim, Zisun, Kwong, Ava, Laitman, Yael, Lasset, Christine, Hyuk Lee, Min, Won Lee, Jong, Lee, Jihyoun, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubinski, Jan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Morrison, Patrick J, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C, Nussbaum, Robert L, and Offit, Kenneth

Subjects
GEMO Study Collaborators, HEBON, EMBRACE, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Body Mass Index, Body Height, Prognosis, Risk Factors, Mutation, Polymorphism, Single Nucleotide, Adult, Female, Mendelian Randomization Analysis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundBRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.MethodsWe used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided.ResultsObserved height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer.ConclusionHeight is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.

Published
2019

46. Latent profile analysis of accelerometer-measured sleep, physical activity, and sedentary time and differences in health characteristics in adult women

Author

Full, Kelsie M, Moran, Kevin, Carlson, Jordan, Godbole, Suneeta, Natarajan, Loki, Hipp, Aaron, Glanz, Karen, Mitchell, Jonathan, Laden, Francine, James, Peter, and Kerr, Jacqueline

Subjects
Biomedical and Clinical Sciences, Curriculum and Pedagogy, Education, Public Health, Health Sciences, Clinical Sciences, Clinical Research, Behavioral and Social Science, Prevention, Basic Behavioral and Social Science, Oral and gastrointestinal, Metabolic and endocrine, Good Health and Well Being, Accelerometry, Adult, Aged, Chronic Disease, Cohort Studies, Cross-Sectional Studies, Exercise, Female, Fitness Trackers, Health Status, Humans, Middle Aged, Rest, Risk Factors, Sedentary Behavior, Sleep, Time Factors, Young Adult, General Science & Technology
Abstract

ObjectivesIndependently, physical activity (PA), sedentary behavior (SB), and sleep are related to the development and progression of chronic diseases. Less is known about how rest-activity behaviors cluster within individuals and how rest-activity behavior profiles relate to health. In this study we aimed to investigate if adult women cluster into profiles based on how they accumulate rest-activity behavior (including accelerometer-measured PA, SB, and sleep), and if participant characteristics and health outcomes differ by profile membership.MethodsA convenience sample of 372 women (mean age 55.38 + 10.16) were recruited from four US cities. Participants wore ActiGraph GT3X+ accelerometers on the hip and wrist for a week. Total daily minutes in moderate-to-vigorous PA (MVPA) and percentage of wear-time spent in SB was estimated from the hip device. Total sleep time (hours/minutes) and sleep efficiency (% of in bed time asleep) were estimated from the wrist device. Latent profile analysis (LPA) was performed to identify clusters of participants based on accumulation of the four rest-activity variables. Adjusted ANOVAs were conducted to explore differences in demographic characteristics and health outcomes across profiles.ResultsRest-activity variables clustered to form five behavior profiles: Moderately Active Poor Sleepers (7%), Highly Actives (9%), Inactives (41%), Moderately Actives (28%), and Actives (15%). The Moderately Active Poor Sleepers (profile 1) had the lowest proportion of whites (35% vs 78-91%, p < .001) and college graduates (28% vs 68-90%, p = .004). Health outcomes did not vary significantly across all rest-activity profiles.ConclusionsIn this sample, women clustered within daily rest-activity behavior profiles. Identifying 24-hour behavior profiles can inform intervention population targets and innovative behavioral goals of multiple health behavior interventions.

Published
2019

48. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Author

Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.

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2022
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50. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Author

Kanoni, Stavroula, Graham, Sarah E., Wang, Yuxuan, Surakka, Ida, Ramdas, Shweta, Zhu, Xiang, Clarke, Shoa L., Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J. M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Yousri, Noha A., Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Hwu, Chii-Min, Hung, Yi-Jen, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Lamina, Claudia, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, EWarwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Vazquez-Moreno, Miguel, Feitosa, Mary F., Wojczynski, Mary K., Wang, Zhe, Preuss, Michael H., Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Tsao, Noah L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Le, Phuong, Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Frank, Mirjam, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Bayyana, Swati, Stringham, Heather M., Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R. H. J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Nardone, Giuseppe Giovanni, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R. B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, Li, Xiaoyin, Liang, Jingjing, Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H. H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W. J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Chen, Yii-Der Ida, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Kardia, Sharon L. R., Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, Hollander, Anneke Iden, Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D. C., Arnett, Donna K., Hunt, Steven C., Walker, Mark, Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Costanzo, Maria C., Jang, Dongkeun, Burtt, Noël P., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, EShyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N. A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Qu, Jia, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, Hart, Leen M.‘t, Elders, Petra J. M., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J. F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F. A., Kiemeney, Lambertus A. L. M., de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., van Dijk, Ko Willems, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Chuang, Lee-Ming, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K. E., Boomsma, Dorret I., Willemsen, Allegonda H. M., Cupples, LAdrienne, van Meurs, Joyce B. J., Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, YEugene, Ho, Yuk-Lam, Lynch, Julie A., Rader, Daniel J., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O’Donnell, Christopher J., Gaziano, John M., Wilson, Peter W. F., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Mohlke, Karen L., Sun, Yan V., Morris, Andrew P., Boehnke, Michael, Brown, Christopher D., Natarajan, Pradeep, Deloukas, Panos, Willer, Cristen J., Assimes, Themistocles L., and Peloso, Gina M.

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2022
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