Population sequencing data reveal a compendium of mutational processes in the human germ line

• DOI: 10.1126/science.aba7408
• Publication Date: 2021-08-12T19:10:19Z
• Authors: Vladimir B. Seply...; Ruslan A. Soldatov; Evan Koch; Ryan J. McGinty; Jakob M. Goldmann; Ryan D. Hernandez; Kathleen Barnes; Adolfo Correa; Esteban G. Burchard; Patrick T. Ellinor; Stephen T. McGarvey; Braxton D. Mitchell; Ramachandran S. V...; Susan Redline; Edwin Silverman; Scott T. Weiss; Donna K. Arnett; John Blangero; Eric Boerwinkle; Jiang He; Courtney Montgomery; D. C. Rao; Jerome I. Rotter; Kent D. Taylor; Jennifer A. Brody; Yii-Der Ida Chen; Lisa de las Fuentes; Chii-Min Hwu; Stephen S. Rich; Ani W. Manichaikul; Josyf C. Mychaleckyj; Nicholette D. Palmer; Jennifer A. Smith; Sharon L. R. Kardia; Patricia A. Peyser; Lawrence F. Bielak; Timothy D. O’Connor; Leslie S. Emery; ; ; Christian Gilissen; Wendy S. W. Wong; Peter V. Kharchenko; Shamil Sunyaev
• Keywords: Compendium; Human genetic variation; 1000 Genomes Project

Gauging the spectrum of human mutations It has become increasing clear that mutation affects phenotypic variation and disease risk across humans. However, there are many different types mutation. Seplyarskiy et al . applied a matrix factorization method to large genomic datasets identify germline mutational processes in an unsupervised manner. From this survey, nine robust components were identified specific mechanisms generating seven these proposed from correlations with features. These results confirm improve upon our understanding reveal likely genome. —LMZ