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Analysis of protein-coding genetic variation in 60,706 humans.
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. Lek M, et al. Among authors: ruderfer dm. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Genetic basis of proteome variation in yeast.
Foss EJ, Radulovic D, Shaffer SA, Ruderfer DM, Bedalov A, Goodlett DR, Kruglyak L. Foss EJ, et al. Among authors: ruderfer dm. Nat Genet. 2007 Nov;39(11):1369-75. doi: 10.1038/ng.2007.22. Epub 2007 Oct 21. Nat Genet. 2007. PMID: 17952072
Genetic classification of populations using supervised learning.
Bridges M, Heron EA, O'Dushlaine C, Segurado R; International Schizophrenia Consortium (ISC); Morris D, Corvin A, Gill M, Pinto C. Bridges M, et al. PLoS One. 2011 May 12;6(5):e14802. doi: 10.1371/journal.pone.0014802. PLoS One. 2011. PMID: 21589856 Free PMC article.
Validation of electronic health record phenotyping of bipolar disorder cases and controls.
Castro VM, Minnier J, Murphy SN, Kohane I, Churchill SE, Gainer V, Cai T, Hoffnagle AG, Dai Y, Block S, Weill SR, Nadal-Vicens M, Pollastri AR, Rosenquist JN, Goryachev S, Ongur D, Sklar P, Perlis RH, Smoller JW; International Cohort Collection for Bipolar Disorder Consortium. Castro VM, et al. Am J Psychiatry. 2015 Apr;172(4):363-72. doi: 10.1176/appi.ajp.2014.14030423. Epub 2014 Dec 12. Am J Psychiatry. 2015. PMID: 25827034 Free PMC article.
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study; Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL. Vilhjálmsson BJ, et al. Am J Hum Genet. 2015 Oct 1;97(4):576-92. doi: 10.1016/j.ajhg.2015.09.001. Am J Hum Genet. 2015. PMID: 26430803 Free PMC article.
138 results