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A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: karczewski kj. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
Pathway analysis of genome-wide data improves warfarin dose prediction.
Daneshjou R, Tatonetti NP, Karczewski KJ, Sagreiya H, Bourgeois S, Drozda K, Burmester JK, Tsunoda T, Nakamura Y, Kubo M, Tector M, Limdi NA, Cavallari LH, Perera M, Johnson JA, Klein TE, Altman RB. Daneshjou R, et al. Among authors: karczewski kj. BMC Genomics. 2013;14 Suppl 3(Suppl 3):S11. doi: 10.1186/1471-2164-14-S3-S11. Epub 2013 May 28. BMC Genomics. 2013. PMID: 23819817 Free PMC article.
The future of genomic medicine is here.
Karczewski KJ. Karczewski KJ. Genome Biol. 2013 Mar 27;14(3):304. doi: 10.1186/gb-2013-14-3-304. Genome Biol. 2013. PMID: 23651957 Free PMC article.
Chapter 7: Pharmacogenomics.
Karczewski KJ, Daneshjou R, Altman RB. Karczewski KJ, et al. PLoS Comput Biol. 2012;8(12):e1002817. doi: 10.1371/journal.pcbi.1002817. Epub 2012 Dec 27. PLoS Comput Biol. 2012. PMID: 23300409 Free PMC article.
Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans.
Daneshjou R, Gamazon ER, Burkley B, Cavallari LH, Johnson JA, Klein TE, Limdi N, Hillenmeyer S, Percha B, Karczewski KJ, Langaee T, Patel SR, Bustamante CD, Altman RB, Perera MA. Daneshjou R, et al. Among authors: karczewski kj. Blood. 2014 Oct 2;124(14):2298-305. doi: 10.1182/blood-2014-04-568436. Epub 2014 Jul 30. Blood. 2014. PMID: 25079360 Free PMC article.
A new system for comparative functional genomics of Saccharomyces yeasts.
Caudy AA, Guan Y, Jia Y, Hansen C, DeSevo C, Hayes AP, Agee J, Alvarez-Dominguez JR, Arellano H, Barrett D, Bauerle C, Bisaria N, Bradley PH, Breunig JS, Bush E, Cappel D, Capra E, Chen W, Clore J, Combs PA, Doucette C, Demuren O, Fellowes P, Freeman S, Frenkel E, Gadala-Maria D, Gawande R, Glass D, Grossberg S, Gupta A, Hammonds-Odie L, Hoisos A, Hsi J, Hsu YH, Inukai S, Karczewski KJ, Ke X, Kojima M, Leachman S, Lieber D, Liebowitz A, Liu J, Liu Y, Martin T, Mena J, Mendoza R, Myhrvold C, Millian C, Pfau S, Raj S, Rich M, Rokicki J, Rounds W, Salazar M, Salesi M, Sharma R, Silverman S, Singer C, Sinha S, Staller M, Stern P, Tang H, Weeks S, Weidmann M, Wolf A, Young C, Yuan J, Crutchfield C, McClean M, Murphy CT, Llinás M, Botstein D, Troyanskaya OG, Dunham MJ. Caudy AA, et al. Among authors: karczewski kj. Genetics. 2013 Sep;195(1):275-87. doi: 10.1534/genetics.113.152918. Epub 2013 Jul 12. Genetics. 2013. PMID: 23852385 Free PMC article.
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, Berenson GS, Boer JM, Burke G, Cade B, Chen W, Cooper-Dehoff RM, Gaunt TR, Gieger C, Gong Y, Gorski M, Heard-Costa N, Johnson T, Lamonte MJ, McDonough C, Monda KL, Onland-Moret NC, Nelson CP, O'Connell JR, Ordovas J, Peter I, Peters A, Shaffer J, Shen H, Smith E, Speilotes L, Thomas F, Thorand B, Monique Verschuren WM, Anand SS, Dominiczak A, Davidson KW, Hegele RA, Heid I, Hofker MH, Huggins GS, Illig T, Johnson JA, Kirkland S; Look AHEAD Research Group; König W, Langaee TY, McCaffery J, Melander O, Mitchell BD, Munroe P, Murray SS, Papanicolaou G, Redline S, Reilly M, Samani NJ, Schork NJ, Van Der Schouw YT, Shimbo D, Shuldiner AR, Tobin MD, Wijmenga C, Yusuf S; GIANT Consortium; CARe IBC Consortium; Hakonarson H, Lange LA, Demerath EW, Fox CS, North KE, Reiner AP, Keating B, Taylor KC. Yoneyama S, et al. Among authors: karczewski kj. Hum Mol Genet. 2014 May 1;23(9):2498-510. doi: 10.1093/hmg/ddt626. Epub 2013 Dec 17. Hum Mol Genet. 2014. PMID: 24345515 Free PMC article.
123 results