Article
Population sequencing data reveal a compendium of mutational processes in the human germ line.
Science (New York, N.Y.) - 27 Aug 2021
Seplyarskiy Vladimir B, Soldatov Ruslan A, Koch Evan, McGinty Ryan J, Goldmann Jakob M, Hernandez Ryan D, Barnes Kathleen, Correa Adolfo, Burchard Esteban G, Ellinor Patrick T, McGarvey Stephen T, Mitchell Braxton D, Vasan Ramachandran S, Redline Susan, Silverman Edwin, Weiss Scott T, Arnett Donna K, Blangero John, Boerwinkle Eric, He Jiang, Montgomery Courtney, Rao D C, Rotter Jerome I, Taylor Kent D, Brody Jennifer A, Chen Yii-Der Ida, de las Fuentes Lisa, Hwu Chii-Min, Rich Stephen S, Manichaikul Ani W, Mychaleckyj Josyf C, Palmer Nicholette D, Smith Jennifer A, Kardia Sharon L R, Peyser Patricia A, Bielak Lawrence F, O'Connor Timothy D, Emery Leslie S, Gilissen Christian, Wong Wendy S W, Kharchenko Peter V, Sunyaev Shamil
Abstract excerpt
Biological mechanisms underlying human germline mutations remain largely unknown. We statistically decompose variation in the rate and spectra of mutations along the genome using volume-regularized nonnegative matrix factorization. The analysis of a sequencing dataset (TOPMed) reveals nine processes that explain the variation in mutation properties between loci. We provide a biological interpretation for seven of...
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