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

Autor: 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

Publikováno v: Nature

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6347c7a6a3b85daab7617d0e0fc1f8ca
https://trepo.tuni.fi/handle/10024/128033

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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Autor: Demontis, D, Walters, R, Martin, J, Mattheisen, M, Als, T, Agerbo, E, Baldursson, G, Belliveau, R, Bybjerg-Grauholm, J, Baekvad-Hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J, Grasby, K, Grove, J, Gudmundsson, O, Hansen, C, Hauberg, M, Hollegaard, M, Howrigan, D, Huang, H, Maller, J, Martin, A, Martin, N, Moran, J, Pallesen, J, Palmer, D, Pedersen, C, Pedersen, M, Poterba, T, Poulsen, J, Ripke, S, Robinson, E, Satterstrom, F, Stefansson, H, Stevens, C, Turley, P, Walters, G, Won, H, Wright, M, Andreassen, O, Asherson, P, Burton, C, Boomsma, D, Cormand, B, Dalsgaard, S, Franke, B, Gelernter, J, Geschwind, D, Hakonarson, H, Haavik, J, Kranzler, H, Kuntsi, J, Langley, K, Lesch, K, Middeldorp, C, Reif, A, Rohde, L, Roussos, P, Schachar, R, Sklar, P, Sonuga-Barke, E, Sullivan, P, Thapar, A, Tung, J, Waldman, I, Medland, S, Stefansson, K, Nordentoft, M, Hougaard, D, Werge, T, Mors, O, Mortensen, P, Daly, M, Faraone, S, Borglum, A, Neale, B, Albayrak, O, Anney, R, Arranz, M, Banaschewski, T, Bau, C, Biederman, J, Buitelaar, J, Casas, M, Charach, A, Crosbie, J, Dempfle, A, Doyle, A, Ebstein, R, Elia, J, Freitag, C, Focker, M, Gill, M, Grevet, E, Hawi, Z, Hebebrand, J, Herpertz-Dahlmann, B, Hervas, A, Hinney, A, Hohmann, S, Holmans, P, Hutz, M, Ickowitz, A, Johansson, S, Kent, L, Kittel-Schneider, S, Lambregts-Rommelse, N, Lehmkuhl, G, Loo, S, McGough, J, Meyer, J, Mick, E, Middletion, F, Miranda, A, Mota, N, Mulas, F, Mulligan, A, Nelson, F, Nguyen, T, Oades, R, O'Donovan, M, Owen, M, Palmason, H, Ramos-Quiroga, J, Renner, T, Ribases, M, Rietschel, M, Rivero, O, Romanos, J, Romanos, M, Rothenberger, A, Royers, H, Sanchez-Mora, C, Scherag, A, Schimmelmann, B, Schafer, H, Sergeant, J, Sinzig, J, Smalley, S, Steinhausen, H, Thompson, M, Todorov, A, Vasquez, A, Walitza, S, Wang, Y, Warnke, A, Williams, N, Witt, S, Yang, L, Zayats, T, Zhang-James, Y, Smith, G, Davies, G, Ehli, E, Evans, D, Fedko, I, Greven, C, Groen-Blokhuis, M, Guxens, M, Hammerschlag, A, Hartman, C, Heinrich, J, Hottenga, J, Hudziak, J, Jugessur, A, Kemp, J, Krapohl, E, Murcia, M, Myhre, R, Nolte, I, Nyholt, D, Ormel, J, Ouwens, K, Pappa, I, Pennell, C, Plomin, R, Ring, S, Standl, M, Stergiakouli, E, St Pourcain, B, Stoltenberg, C, Sunyer, J, Thiering, E, Tiemeier, H, Tiesler, C, Timpson, N, Trzaskowski, M, van der Most, P, Vilor-Tejedor, N, Wang, C, Whitehouse, A, Zhao, H, Agee, M, Alipanahi, B, Auton, A, Bell, R, Bryc, K, Elson, S, Fontanillas, P, Furlotte, N, Hinds, D, Hromatka, B, Huber, K, Kleinman, A, Litterman, N, McIntyre, M, Mountain, J, Northover, C, Pitts, S, Sathirapongsasuti, J, Sazonova, O, Shelton, J, Shringarpure, S, Tian, C, Vacic, V, Wilson, C, ADHD Working Grp Psychiat Genomics, Early Lifecourse Genetic, 23andMe Res Team

Publikováno v: Demontis, D, Walters, R K, Martin, J, Mattheisen, M, Als, T D, Agerbo, E, Baldursson, G, Belliveau, R, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J I, Grasby, K L, Grove, J, Gudmundsson, O O, Hansen, C S, Hauberg, M E, Hollegaard, M V, Howrigan, D P, Huang, H, Maller, J B, Martin, A R, Moran, J, Martin, N G, Pallesen, J, Palmer, D S, Pedersen, C B, Pedersen, M G, Poterba, T, Poulsen, J B, Ripke, S, Robinson, E B, Satterstrom, F K, Stefansson, H, Stevens, C, Turley, P, Walters, G B, Won, H, Wright, M J, ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Steinhausen, H-C E, Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Andreassen, O A, Asherson, P, Burton, C L, Boomsma, D I, Cormand, B, Dalsgaard, S, Franke, B, Gelernter, J, Geschwind, D, Hakonarson, H, Haavik, J, Kranzler, H R, Kuntsi, J, Langley, K, Lesch, K-P, Middeldorp, C, Reif, A, Rohde, L A, Roussos, P, Schachar, R, Sklar, P, Sonuga-Barke, E J S, Sullivan, P F, Thapar, A, Tung, J Y, Waldman, I D, Medland, S E, Stefansson, K, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Mortensen, P B, Daly, M J, Faraone, S V, Børglum, A D & Neale, B M 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, no. 1, pp. 63-75 . https://doi.org/10.1038/s41588-018-0269-7
NATURE GENETICS
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Nature genetics, vol 51, iss 1
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FISABIO. Repositorio Institucional de Producción Científica
Nature Genetics
23andMe Research Team, ADHD Working Group of the Psychiatric Genomics Consortium (PGC) & Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, no. 1, pp. 63-75 . https://doi.org/10.1038/s41588-018-0269-7, https://doi.org/10.1038/s41588-018-0269-7
Nature Genetics, 51(1), 63-75. Nature Publishing Group
Demontis, D, Walters, R K, Martin, J, Mattheisen, M, Als, T D, Agerbo, E, Baldursson, G S, Belliveau, R, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J I, Grasby, K L, Grove, J, Gudmundsson, O O, Hansen, C S, Hauberg, M E, Hollegaard, M V, Howrigan, D P, Huang, H, Maller, J B, Martin, A R, Martin, N G, Moran, J, Pallesen, J, Palmer, D S, Pedersen, C B C, Pedersen, M G, Poterba, T, Poulsen, J B, Ripke, S, Robinson, E B, Satterstrom, F K, Stefansson, H, Stevens, C, Turley, P, Walters, G B, Won, H, Wright, M J, Albayrak, Ö, Nguyen, T T, Evans, D M, Groen-Blokhuis, M M, Hammerschlag, A R, Middeldorp, C, ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Reif, A, Rohde, L A, Roussos, P, Schachar, R, Sonuga-Barke, E J S, Sullivan, P, Thapar, A, Tung, J Y, Waldman, I D, Medland, S E, Mors, O, Bo Mortensen, P, Daly, M J, Faraone, S V, Børglum, A D & Neale, B M 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, no. 1, pp. 63-75 . https://doi.org/10.1038/s41588-018-0269-7
ADHD Working Group of the Psychiatric Genomics Consortium (PGC) 2018, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ' Nature Genetics . https://doi.org/10.1038/s41588-018-0269-7
Nature Genetics, 51, 1, pp. 63-75
Demontis, D, Walters, R K, Martin, J, Mattheisen, M, Als, T D, Agerbo, E, Baldursson, G, Belliveau, R, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J I, Grasby, K L, Grove, J, Gudmundsson, O O, Hansen, C S, Hauberg, M E, Hollegaard, M V, Howrigan, D P, Huang, H, Maller, J B, Martin, A R, Martin, N G, Moran, J, Pallesen, J, Palmer, D S, Pedersen, C B, Pedersen, M G, Poterba, T, Poulsen, J B, Ripke, S, Robinson, E B, Satterstrom, F K, Stefansson, H, Stevens, C, Turley, P, Walters, G B, Won, H, Wright, M J, ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Dalsgaard, S, Mors, O, Mortensen, P B & Børglum, A D 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, pp. 63–75 . https://doi.org/10.1038/s41588-018-0269-7
Nat Genet
Nature Genetics, 51, 63-75
Nature Genetics, 51(1), 63-+. Nature Publishing Group
Demontis, D, Walters, R K, Martin, J, Mattheisen, M, Als, T D, Agerbo, E, Baldursson, G, Belliveau, R, Bybjerg-grauholm, J, Bækvad-hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J I, Grasby, K L, Grove, J, Gudmundsson, O O, Hansen, C S, Hauberg, M E, Hollegaard, M V, Howrigan, D P, Huang, H, Maller, J B, Martin, A R, Martin, N G, Moran, J, Pallesen, J, Palmer, D S, Pedersen, C B, Pedersen, M G, Poterba, T, Poulsen, J B, Ripke, S, Robinson, E B, Satterstrom, F K, Stefansson, H, Stevens, C, Turley, P, Walters, G B, Won, H, Wright, M J, Andreassen, O A, Asherson, P, Burton, C L, Kuntsi, J, Sonuga-barke, E J S & Neale, B M & Plomin, R 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, no. 1, pp. 63-75 . https://doi.org/10.1038/s41588-018-0269-7
the 23 and Me Research Team, Demontis, D, Walters, R K, Martin, J, Mattheisen, M, Als, T D, Agerbo, E, Baldursson, G, Belliveau, R, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Churchhouse, C, Dumont, A, Eriksson, N, Gandal, M, Goldstein, J I, Grasby, K L, Grove, J, Gudmundsson, O O, Hansen, C S, Hauberg, M E, Hollegaard, M V, Howrigan, D P, Huang, H, Maller, J B, Martin, A R, Martin, N G, Moran, J, Pallesen, J, Palmer, D S, Pedersen, C B, Pedersen, M G, Poterba, T, Poulsen, J B, Ripke, S, Robinson, E B, Satterstrom, F K, Smith, G D, Davies, G E, Evans, D M, Kemp, J P, Ring, S, Stergiakouli, E, Pourcain, B S, Stoltenberg, C, Timpson, N J & Langley, K & Thapar, A & Medland, S E 2019, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ', Nature Genetics, vol. 51, no. 1, pp. 63-75 . https://doi.org/10.1038/s41588-018-0269-7
23andMe Research Team, ADHD Working Group of the Psychiatric Genomics Consortium (PGC) & Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium 2018, ' Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder ' Nature Genetics . https://doi.org/10.1038/s41588-018-0269-7
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Genetics, 51(1). Nature Publishing Group

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robust

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce760c90c78b6a37ae310ef7de882004
https://vbn.aau.dk/da/publications/2ea2ba33-e51e-4b07-a628-232327647cdd

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