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The mutational constraint spectrum quantified from variation in 141,456 humans

K. Karczewski, L. Francioli, G. Tiao, B. Cummings, J. Alföldi, Q. Wang, R. Collins, K. Laricchia, A. Ganna, D. Birnbaum, L. Gauthier, H. Brand, M. Solomonson, N. Watts, D. Rhodes, M. Singer-Berk, E. England, E. Seaby, J. Kosmicki, R. Walters, K. Tashman, Y. Farjoun, E. Banks, T. Poterba, A. Wang, C. Seed, N. Whiffin, J. Chong, K. Samocha, E. Pierce-Hoffman, Z. Zappala, A. O’Donnell-Luria, E. Minikel, B. Weisburd, M. Lek, J. Ware, C. Vittal, I. Armean, L. Bergelson, K. Cibulskis, K. Connolly, M. Covarrubias, S. Donnelly, S. Ferriera, S. Gabriel, J. Gentry, N. Gupta, T. Jeandet, D. Kaplan, C. Llanwarne, R. Munshi, S. Novod, N. Petrillo, D. Roazen, V. Ruano-Rubio, A. Saltzman, M. Schleicher, J. Soto, K. Tibbetts, C. Tolonen, G. Wade, M. Talkowski, C. Aguilar Salinas, T. Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, J. Cho, M. Chung, B. Cohen, A. Correa, D. Dabelea, M. Daly, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosua, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, B. Glaser, S. Glatt, D. Goldstein, C. Gonzalez, L. Groop, C. Haiman, C. Hanis, M. Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, B. Kim, Y. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, R. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. McCarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, B. Neale, P. Nilsson, M. O’Donovan, D. Ongur, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, T. Tiinamaija, M. Tsuang, D. Turner, T. Tusie-Luna, E. Vartiainen, J. Ware, H. Watkins, R. Weersma, M. Wessman, J. Wilson, R. Xavier, B. Neale, M. Daly, D. MacArthur, and G. Consortium. Nature, 581 (7809): 434--443 (2020)
DOI: 10.1038/s41586-020-2308-7

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François Gannaz

Ganna Reznik

Ganna Pugach

Ganna Podoprygorina

Ganna Zimmermann

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Variant Score Ranker - a web application for intuitive missense variant prioritization.J. Du, M. Sudarsanam, E. Pérez-Palma, A. Ganna, L. Francioli, S. Iqbal, L. Niestroj, C. Leu, B. Weisburd, T. Poterba and 5 other author(s). Bioinform., 35 (21): 4478-4479 (2019)Rediscovery rate estimation for assessing the validation of significant findings in high-throughput studies.A. Ganna, D. Lee, E. Ingelsson, and Y. Pawitan. Briefings Bioinform., 16 (4): 563-575 (2015)The mutational constraint spectrum quantified from variation in 141,456 humansK. Karczewski, L. Francioli, G. Tiao, B. Cummings, J. Alföldi, Q. Wang, R. Collins, K. Laricchia, A. Ganna, D. Birnbaum and 167 other author(s). Nature, 581 (7809): 434--443 (2020)Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studiesM. Sohail, R. Maier, A. Ganna, A. Bloemendal, A. Martin, M. Turchin, C. Chiang, J. Hirschhorn, M. Daly, N. Patterson and 4 other author(s). bioRxiv, (2018)HAPNEST: efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes.S. Wharrie, Z. Yang, V. Raj, R. Monti, R. Gupta, Y. Wang, A. Martin, L. O'Connor, S. Kaski, P. Marttinen and 3 other author(s). Bioinform., (September 2023)The impact of rare variation on gene expression across tissues.X. Li, Y. Kim, E. Tsang, J. Davis, F. Damani, C. Chiang, G. Hess, Z. Zappala, B. Strober, A. Scott and 65 other author(s). Nat., 550 (7675): 239-243 (2017)Characterizing personalized effects of family information on disease risk using graph representation learning.S. Wharrie, Z. Yang, A. Ganna, and S. Kaski. MLHC, volume 219 of Proceedings of Machine Learning Research, page 824-845. PMLR, (2023)Genetic analyses identify widespread sex-differential participation biasN. Pirastu, M. and Cordioli, P. and Nandakumar, G. and Mignogna, A. and Abdellaoui, B. and Hollis, M. and Kanai, V. and Rajagopal, P. and Della Briotta Parolo, N. and Baya and 22 other author(s). bioRxiv, (2020)

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Disambiguation of "Ganna, Andrea"

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The mutational constraint spectrum quantified from variation in 141,456 humans

Please choose a person to relate this publication to

François Gannaz

Ganna Reznik

Ganna Pugach

Ganna Podoprygorina

Ganna Zimmermann

Other publications of authors with the same name

Disambiguation

BibSonomy

Disambiguation of "Ganna, Andrea"

copydeleteadd this publication to your clipboardcommunity posthistory of this postURLDOIBibTeXEndNoteAPAChicagoDIN 1505HarvardMSOffice XML The mutational constraint spectrum quantified from variation in 141,456 humans

Please choose a person to relate this publication to

François Gannaz

Ganna Reznik

Ganna Pugach

Ganna Podoprygorina

Ganna Zimmermann

Other publications of authors with the same name

Disambiguation

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history of this post
URL
DOI
BibTeX
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APA
Chicago
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The mutational constraint spectrum quantified from variation in 141,456 humans