Article
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.
Nature genetics - 1 Oct 2018
Reshef Yakir A, Finucane Hilary K, Kelley David R, Gusev Alexander, Kotliar Dylan, Ulirsch Jacob C, Hormozdiari Farhad, Nasser Joseph, O'Connor Luke, van de Geijn Bryce, Loh Po-Ru, Grossman Sharon R, Bhatia Gaurav, Gazal Steven, Palamara Pier Francesco, Pinello Luca, Patterson Nick, Adams Ryan P, Price Alkes L
Abstract excerpt
Biological interpretation of genome-wide association study data frequently involves assessing whether SNPs linked to a biological process, for example, binding of a transcription factor, show unsigned enrichment for disease signal. However, signed annotations quantifying whether each SNP allele promotes or hinders the biological process can enable stronger statements about disease mechanism. We introduce a...
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