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127 results

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Page 1
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.
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.
Rämö JT, Kiiskinen T, Seist R, Krebs K, Kanai M, Karjalainen J, Kurki M, Hämäläinen E, Häppölä P, Havulinna AS, Hautakangas H; FinnGen; Mägi R, Palta P, Esko T, Metspalu A, Pirinen M, Karczewski KJ, Ripatti S, Milani L, Stankovic KM, Mäkitie A, Daly MJ, Palotie A. Rämö JT, et al. Among authors: karczewski kj. Nat Commun. 2023 Jan 18;14(1):157. doi: 10.1038/s41467-022-32936-3. Nat Commun. 2023. PMID: 36653343 Free PMC article.
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 Free PMC article.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Among authors: karczewski kj. medRxiv [Preprint]. 2023 Mar 9:2023.03.08.23286955. doi: 10.1101/2023.03.08.23286955. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005 PMID: 36945502 Free PMC article. Updated. Preprint.
Author Correction: 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 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Polygenic architecture of rare coding variation across 394,783 exomes.
Weiner DJ, Nadig A, Jagadeesh KA, Dey KK, Neale BM, Robinson EB, Karczewski KJ, O'Connor LJ. Weiner DJ, et al. Among authors: karczewski kj. Nature. 2023 Feb;614(7948):492-499. doi: 10.1038/s41586-022-05684-z. Epub 2023 Feb 8. Nature. 2023. PMID: 36755099 Free PMC article.
Mono- and biallelic variant effects on disease at biobank scale.
Heyne HO, Karjalainen J, Karczewski KJ, Lemmelä SM, Zhou W; FinnGen; Havulinna AS, Kurki M, Rehm HL, Palotie A, Daly MJ. Heyne HO, et al. Among authors: karczewski kj. Nature. 2023 Jan;613(7944):519-525. doi: 10.1038/s41586-022-05420-7. Epub 2023 Jan 18. Nature. 2023. PMID: 36653560 Free PMC article.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Among authors: karczewski kj. Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16. Nature. 2023. PMID: 37587338 Free PMC article.
127 results