Article
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Nature genetics - 26 Apr 2018
Werling Donna M, Brand Harrison, An Joon-Yong, Stone Matthew R, Zhu Lingxue, Glessner Joseph T, Collins Ryan L, Dong Shan, Layer Ryan M, Markenscoff-Papadimitriou Eirene, Farrell Andrew, Schwartz Grace B, Wang Harold Z, Currall Benjamin B, Zhao Xuefang, Dea Jeanselle, Duhn Clif, Erdman Carolyn A, Gilson Michael C, Yadav Rachita, Handsaker Robert E, Kashin Seva, Klei Lambertus, Mandell Jeffrey D, Nowakowski Tomasz J, Liu Yuwen, Pochareddy Sirisha, Smith Louw, Walker Michael F, Waterman Matthew J, He Xin, Kriegstein Arnold R, Rubenstein John L, Sestan Nenad, McCarroll Steven A, Neale Benjamin M, Coon Hilary, Willsey A Jeremy, Buxbaum Joseph D, Daly Mark J, State Matthew W, Quinlan Aaron R, Marth Gabor T, Roeder Kathryn, Devlin Bernie, Talkowski Michael E, Sanders Stephan J
Abstract excerpt
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide variants, insertion/deletions, and all classes of structural variation from whole-genome sequencing (WGS). Integrating genomic annotations at the level of nucleotides,...
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