Article
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Science advances - 28 Apr 2023
Weinstock Joshua S, Laurie Cecelia A, Broome Jai G, Taylor Kent D, Guo Xiuqing, Shuldiner Alan R, O'Connell Jeffrey R, Lewis Joshua P, Boerwinkle Eric, Barnes Kathleen C, Chami Nathalie, Kenny Eimear E, Loos Ruth J F, Fornage Myriam, Redline Susan, Cade Brian E, Gilliland Frank D, Chen Zhanghua, Gauderman W James, Kumar Rajesh, Grammer Leslie, Schleimer Robert P, Psaty Bruce M, Bis Joshua C, Brody Jennifer A, Silverman Edwin K, Yun Jeong H, Qiao Dandi, Weiss Scott T, Lasky-Su Jessica, DeMeo Dawn L, Palmer Nicholette D, Freedman Barry I, Bowden Donald W, Cho Michael H, Vasan Ramachandran S, Johnson Andrew D, Yanek Lisa R, Becker Lewis C, Kardia Sharon, He Jiang, Kaplan Robert, Heckbert Susan R, Smith Nicholas L, Wiggins Kerri L, Arnett Donna K, Irvin Marguerite R, Tiwari Hemant, Correa Adolfo, Raffield Laura M, Gao Yan, de Andrade Mariza, Rotter Jerome I, Rich Stephen S, Manichaikul Ani W, Konkle Barbara A, Johnsen Jill M, Wheeler Marsha M, Custer Brian S, Duggirala Ravindranath, Curran Joanne E, Blangero John, Gui Hongsheng, Xiao Shujie, Williams L Keoki, Meyers Deborah A, Li Xingnan, Ortega Victor, McGarvey Stephen, Gu C Charles, Chen Yii-Der Ida, Lee Wen-Jane, Shoemaker M Benjamin, Darbar Dawood, Roden Dan, Albert Christine, Kooperberg Charles, Desai Pinkal, Blackwell Thomas W, Abecasis Goncalo R, Smith Albert V, Kang Hyun M, Mathias Rasika, Natarajan Pradeep, Jaiswal Siddhartha, Reiner Alexander P, Bick Alexander G
Abstract excerpt
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by...
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