Article
Inflated expectations: Rare-variant association analysis using public controls.
PloS one - 1 Jan 2023
Kim Jung, Karyadi Danielle M, Hartley Stephen W, Zhu Bin, Wang Mingyi, Wu Dongjing, Song Lei, Armstrong Gregory T, Bhatia Smita, Robison Leslie L, Yasui Yutaka, Carter Brian, Sampson Joshua N, Freedman Neal D, Goldstein Alisa M, Mirabello Lisa, Chanock Stephen J, Morton Lindsay M, Savage Sharon A, Stewart Douglas R
Abstract excerpt
The use of publicly available sequencing datasets as controls (hereafter, "public controls") in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could contribute to inflated distribution of test statistics have not been systematically examined. Here, we leveraged both public controls, gnomAD v2.1 and several datasets...
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