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Page 1
The origin of human mutation in light of genomic data.
Seplyarskiy VB, Sunyaev S. Seplyarskiy VB, et al. Nat Rev Genet. 2021 Oct;22(10):672-686. doi: 10.1038/s41576-021-00376-2. Epub 2021 Jun 23. Nat Rev Genet. 2021. PMID: 34163020 Review.
Population sequencing data reveal a compendium of mutational processes in the human germ line.
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Seplyarskiy VB, et al. Science. 2021 Aug 27;373(6558):1030-1035. doi: 10.1126/science.aba7408. Epub 2021 Aug 12. Science. 2021. PMID: 34385354 Free PMC article.
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI. Bonilla X, et al. Among authors: seplyarskiy vb. Nat Genet. 2016 Apr;48(4):398-406. doi: 10.1038/ng.3525. Epub 2016 Mar 7. Nat Genet. 2016. PMID: 26950094
Gene age predicts the strength of purifying selection acting on gene expression variation in humans.
Popadin KY, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, Zdobnov EM, Dermitzakis ET, Antonarakis SE. Popadin KY, et al. Among authors: seplyarskiy vb. Am J Hum Genet. 2014 Dec 4;95(6):660-74. doi: 10.1016/j.ajhg.2014.11.003. Am J Hum Genet. 2014. PMID: 25480033 Free PMC article.
22 results