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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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Mark J Boda

Kieran Daly

Marwa Daly

Hesham Daly

Ulvi Dalyan

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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)A structural variation reference for medical and population genetics.R. Collins, H. Brand, K. Karczewski, X. Zhao, J. Alföldi, L. Francioli, A. Khera, C. Lowther, L. Gauthier, H. Wang and 174 other author(s). Nat., 581 (7809): 444-451 (2020)Human Demographic History Impacts Genetic Risk Prediction across Diverse PopulationsA. Martin, C. Gignoux, R. Walters, G. Wojcik, B. Neale, S. Gravel, M. Daly, C. Bustamante, and E. Kenny. The American Journal of Human Genetics, 100 (4): 635--649 (April 2017)Multiple genetic loci modify susceptibility to plasmacytoma-related morbidity in E(mu)-v-abl transgenic miceR. Symons, M. Daly, J. Fridlyand, T. Speed, W. Cook, S. Gerondakis, A. Harris, and S. Foote. Proc. Natl. Acad. Sci. U.S.A., 99 (17): 11299-11304 (2002)Differences in the Commonly used Genotype Imputation Algorithms and Their Imputation Accuracy Estimates.K. Parn, M. Pirinen, M. Kals, R. Mägi, V. Salomaa, M. Boehnke, I. Hall, N. Stitziel, N. Freimer, M. Daly and 3 other author(s). eScience, page 293-294. IEEE Computer Society, (2018)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)Searching for missing heritability: Designing rare variant association studiesO. Zuk, S. Schaffner, K. Samocha, R. Do, E. Hechter, S. Kathiresan, M. Daly, B. Neale, S. Sunyaev, and E. Lander. Proceedings of the National Academy of Sciences, 111 (4): E455-E464 (2014)

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Disambiguation of "Daly, Mark J."

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

Please choose a person to relate this publication to

Mark J Boda

Kieran Daly

Marwa Daly

Hesham Daly

Ulvi Dalyan

Other publications of authors with the same name

Disambiguation

BibSonomy

Disambiguation of "Daly, Mark J."

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

Mark J Boda

Kieran Daly

Marwa Daly

Hesham Daly

Ulvi Dalyan

Other publications of authors with the same name

Disambiguation

copy delete add this publication to your clipboard
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URL
DOI
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The mutational constraint spectrum quantified from variation in 141,456 humans