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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
Dynamic landscape and regulation of RNA editing in mammals.
Tan MH, Li Q, Shanmugam R, Piskol R, Kohler J, Young AN, Liu KI, Zhang R, Ramaswami G, Ariyoshi K, Gupte A, Keegan LP, George CX, Ramu A, Huang N, Pollina EA, Leeman DS, Rustighi A, Goh YPS; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Chawla A, Del Sal G, Peltz G, Brunet A, Conrad DF, Samuel CE, O'Connell MA, Walkley CR, Nishikura K, Li JB. Tan MH, et al. Nature. 2017 Oct 11;550(7675):249-254. doi: 10.1038/nature24041. Nature. 2017. PMID: 29022589 Free PMC article.
Regulatory variation within and between species.
Zheng W, Gianoulis TA, Karczewski KJ, Zhao H, Snyder M. Zheng W, et al. Among authors: karczewski kj. Annu Rev Genomics Hum Genet. 2011;12:327-46. doi: 10.1146/annurev-genom-082908-150139. Annu Rev Genomics Hum Genet. 2011. PMID: 21721942 Review.
Extensive genetic variation in somatic human tissues.
O'Huallachain M, Karczewski KJ, Weissman SM, Urban AE, Snyder MP. O'Huallachain M, et al. Among authors: karczewski kj. Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18018-23. doi: 10.1073/pnas.1213736109. Epub 2012 Oct 5. Proc Natl Acad Sci U S A. 2012. PMID: 23043118 Free PMC article.
Performance of genomic medicine.
Karczewski KJ, Montgomery SB. Karczewski KJ, et al. Genome Biol. 2013 Dec 23;14(12):316. doi: 10.1186/gb4146. Genome Biol. 2013. PMID: 24359965 Free PMC article.
Bioinformatics challenges for personalized medicine.
Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. Fernald GH, et al. Among authors: karczewski kj. Bioinformatics. 2011 Jul 1;27(13):1741-8. doi: 10.1093/bioinformatics/btr295. Epub 2011 May 19. Bioinformatics. 2011. PMID: 21596790 Free PMC article.
121 results