Transcript expression-aware annotation improves rare variant interpretation von Cummings, BB, Karczewski, KJ, Kosmicki, JA, Seaby, EG, Watts, NA, Singer-Berk, M, Mudge, JM, Karjalainen, J, Satterstrom, FK, O'Donnell-Luria, AH, Poterba, T, Seed, C, Solomonson, M, Alföldi, J, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Daly, MJ, MacArthur, DG

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Whole genome sequencing reveals host factors underlying critical Covid-19 von Kousathanas, A, Pairo-Castineira, E, Rawlik, K, Stuckey, A, Odhams, CA, Walker, S, Russell, CD, Malinauskas, T, Wu, Y, Millar, J, Shen, X, Elliott, KS, Griffiths, F, Oosthuyzen, W, Morrice, K, Keating, S, Wang, B, Rhodes, D, Klaric, L, Zechner, M, Parkinson, N, Siddiq, A, Goddard, P, Donovan, S, Maslove, D, Nichol, A, Semple, MG, Zainy, T, Maleady-Crowe, F, Todd, L, Salehi, S, Knight, J, Elgar, G, Chan, G, Arumugam, P, Patch, C, Rendon, A, Bentley, D, Kingsley, C, Kosmicki, JA, Horowitz, JE, Baras, A, Abecasis, GR, Ferreira, MAR, Justice, A, Mirshahi, T, Oetjens, M, Rader, DJ, Ritchie, MD, Verma, A, Fowler, TA, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D, Montgomery, H, Openshaw, PJM, Elliott, P, Walsh, T, Tenesa, A, GenOMICC Investigators, 23andMe, Covid-19 Human Genetics Initiative, Fawkes, A, Murphy, L, Rowan, K, Ponting, CP, Vitart, V, Wilson, JF, Yang, J, Bretherick, AD, Scott, RH, Hendry, SC, Moutsianas, L, Law, A, Caulfield, MJ, Baillie, JK

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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans von Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Aggregation, G, Neale, BM, Daly, MJ, MacArthur, DG

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020) von Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Neale, BM, Daly, MJ, MacArthur, DG

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The mutational constraint spectrum quantified from variation in 141,456 humans von Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O’Donnell-Luria, AH, Vallabh Minikel, E, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, JM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, J, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Genome Aggregation Database (gnomAD) Consortium, Neale, BM, Daly, MJ, MacArthur, DG

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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders von Lal, D, May, P, Perez-Palma, E, Samocha, KE, Kosmicki, JA, Robinson, EB, Møller, RS, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, LM, Du, J, Marini, C, EuroEPINOMICS-RES Consortium, Ware, JS, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, BA, Koeleman, BPC, Helbig, KL, Weber, YG, Helbig, I, Majithia, AR, Palotie, A, Daly, MJ

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Analysis of protein-coding genetic variation in 60,706 humans von Lek, M, Karczewski, KJ, Minikel, EV, Samocha, KE, Banks, E, Fennell, T, O'Donnell-Luria, AH, Ware, JS, Hill, AJ, Cummings, BB, Tukiainen, T, Birnbaum, DP, Kosmicki, JA, Duncan, LE, Estrada, K, Zhao, F, Zou, J, Pierce-Hoffman, E, Berghout, J, Cooper, DN, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, MI, Moonshine, AL, Natarajan, P, Orozco, L, Peloso, GM, Poplin, R, Rivas, MA, Ruano-Rubio, V, Rose, SA, Ruderfer, DM, Shakir, K, Stenson, PD, Stevens, C, Thomas, BP, Tiao, G, Tusie-Luna, MT, Weisburd, B, Won, HH, Yu, D, Altshuler, DM, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, JC, Gabriel, SB, Getz, G, Glatt, SJ, Hultman, CM, Kathiresan, S, Laakso, M, McCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Neale, BM, Palotie, A, Purcell, SM, Saleheen, D, Scharf, JM, Sklar, P, Sullivan, PF, Tuomilehto, J, Tsuang, MT, Watkins, HC, Wilson, JG, Daly, MJ, MacArthur, DG, Exome Aggregation Consortium

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De novo variants in neurodevelopmental disorders with epilepsy von Heyne, HO, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, KL, Koeleman, BPC, Kosmicki, JA, Linnankivi, T, May, P, Muhle, H, Moller, RS, Neubauer, BA, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Poduri, A, Weber, YG, Weckhuysen, S, Sisodiya, SM, Daly, MJ, Helbig, I, Lal, D, Lemke, JR

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Apparat og fremgangsmate for horisontal stoping og skjaering av metallbillets von BORMAN JAMES, HAMBY JACK, KOSMICKI MICHAEL, TREFFRY JOHN DAVID, BOWLES WADE LEE, TINGEY JOHN STEVEN

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