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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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Samuli Siltanen

Samuli Laine

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Deletion of TOP3$\beta$, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disordersG. Stoll, O. Pietiläinen, B. Linder, J. Suvisaari, C. Brosi, W. Hennah, V. Leppä, M. Torniainen, S. Ripatti, S. Ala-Mello and 1 other author(s). Nature neuroscience, 16 (9): 1228--1237 (2013)FINEMAP: efficient variable selection using summary data from genome-wide association studies.C. Benner, C. Spencer, A. Havulinna, V. Salomaa, S. Ripatti, and M. Pirinen. Bioinform., 32 (10): 1493-1501 (2016)Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression.P. Marttinen, M. Pirinen, A. Sarin, J. Gillberg, J. Kettunen, I. Surakka, A. Kangas, P. Soininen, P. O'Reilly, M. Kaakinen and 8 other author(s). Bioinform., 30 (14): 2026-2034 (2014)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)biMM: efficient estimation of genetic variances and covariances for cohorts with high-dimensional phenotype measurements.M. Pirinen, C. Benner, P. Marttinen, M. Järvelin, M. Rivas, and S. Ripatti. Bioinform., 33 (15): 2405-2407 (2017)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)Metabonomic, transcriptomic, and genomic variation of a population cohortM. Inouye, J. Kettunen, P. Soininen, K. Silander, S. Ripatti, L. Kumpula, E. Hamalainen, P. Jousilahti, A. Kangas, S. Mannisto and 8 other author(s). Molecular Systems Biology, (Dec 21, 2010)SAIL - a software system for sample and phenotype availability across biobanks and cohorts.M. Gostev, J. Fernandez-Banet, J. Rung, J. Dietrich, I. Prokopenko, S. Ripatti, M. McCarthy, A. Brazma, and M. Krestyaninova. Bioinform., 27 (4): 589-591 (2011)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)

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Disambiguation of "Ripatti, Samuli"

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

Please choose a person to relate this publication to

Samuli Siltanen

Samuli Laine

Other publications of authors with the same name

Disambiguation

BibSonomy

Disambiguation of "Ripatti, Samuli"

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

Samuli Siltanen

Samuli Laine

Other publications of authors with the same name

Disambiguation

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