Article
Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value.
Communications biology - 24 Nov 2023
Moore Amy, Marks Jesse A, Quach Bryan C, Guo Yuelong, Bierut Laura J, Gaddis Nathan C, Hancock Dana B, Page Grier P, Johnson Eric O
Abstract excerpt
Where sufficiently large genome-wide association study (GWAS) samples are not currently available or feasible, methods that leverage increasing knowledge of the biological function of variants may illuminate discoveries without increasing sample size. We comprehensively evaluated 17 functional weighting methods for identifying novel associations. We assessed the performance of these methods using published...
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