Article
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Nature genetics - 1 Sept 2020
Li Xihao, Li Zilin, Zhou Hufeng, Gaynor Sheila M, Liu Yaowu, Chen Han, Sun Ryan, Dey Rounak, Arnett Donna K, Aslibekyan Stella, Ballantyne Christie M, Bielak Lawrence F, Blangero John, Boerwinkle Eric, Bowden Donald W, Broome Jai G, Conomos Matthew P, Correa Adolfo, Cupples L Adrienne, Curran Joanne E, Freedman Barry I, Guo Xiuqing, Hindy George, Irvin Marguerite R, Kardia Sharon L R, Kathiresan Sekar, Khan Alyna T, Kooperberg Charles L, Laurie Cathy C, Liu X Shirley, Mahaney Michael C, Manichaikul Ani W, Martin Lisa W, Mathias Rasika A, McGarvey Stephen T, Mitchell Braxton D, Montasser May E, Moore Jill E, Morrison Alanna C, O'Connell Jeffrey R, Palmer Nicholette D, Pampana Akhil, Peralta Juan M, Peyser Patricia A, Psaty Bruce M, Redline Susan, Rice Kenneth M, Rich Stephen S, Smith Jennifer A, Tiwari Hemant K, Tsai Michael Y, Vasan Ramachandran S, Wang Fei Fei, Weeks Daniel E, Weng Zhiping, Wilson James G, Yanek Lisa R, Neale Benjamin M, Sunyaev Shamil R, Abecasis Gonçalo R, Rotter Jerome I, Willer Cristen J, Peloso Gina M, Natarajan Pradeep, Lin Xihong
Abstract excerpt
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for association using annotation information), a scalable and powerful RV association test method that effectively incorporates both variant categories and multiple...
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