Article
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
PLoS genetics - 1 Dec 2019
Kowalski Madeline H, Qian Huijun, Hou Ziyi, Rosen Jonathan D, Tapia Amanda L, Shan Yue, Jain Deepti, Argos Maria, Arnett Donna K, Avery Christy, Barnes Kathleen C, Becker Lewis C, Bien Stephanie A, Bis Joshua C, Blangero John, Boerwinkle Eric, Bowden Donald W, Buyske Steve, Cai Jianwen, Cho Michael H, Choi Seung Hoan, Choquet Hélène, Cupples L Adrienne, Cushman Mary, Daya Michelle, de Vries Paul S, Ellinor Patrick T, Faraday Nauder, Fornage Myriam, Gabriel Stacey, Ganesh Santhi K, Graff Misa, Gupta Namrata, He Jiang, Heckbert Susan R, Hidalgo Bertha, Hodonsky Chani J, Irvin Marguerite R, Johnson Andrew D, Jorgenson Eric, Kaplan Robert, Kardia Sharon L R, Kelly Tanika N, Kooperberg Charles, Lasky-Su Jessica A, Loos Ruth J F, Lubitz Steven A, Mathias Rasika A, McHugh Caitlin P, Montgomery Courtney, Moon Jee-Young, Morrison Alanna C, Palmer Nicholette D, Pankratz Nathan, Papanicolaou George J, Peralta Juan M, Peyser Patricia A, Rich Stephen S, Rotter Jerome I, Silverman Edwin K, Smith Jennifer A, Smith Nicholas L, Taylor Kent D, Thornton Timothy A, Tiwari Hemant K, Tracy Russell P, Wang Tao, Weiss Scott T, Weng Lu-Chen, Wiggins Kerri L, Wilson James G, Yanek Lisa R, Zöllner Sebastian, North Kari E, Auer Paul L, Raffield Laura M, Reiner Alexander P, Li Yun
Abstract excerpt
Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, and genetic studies of populations of Hispanic/Latino and African ancestry are limited. In addition, these populations have more complex linkage disequilibrium structure. In order to better define the genetic architecture of these understudied populations, we leveraged >100,000 phased sequences...
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