Article
Functionally informed fine-mapping and polygenic localization of complex trait heritability.
Nature genetics - 1 Dec 2020
Weissbrod Omer, Hormozdiari Farhad, Benner Christian, Cui Ran, Ulirsch Jacob, Gazal Steven, Schoech Armin P, van de Geijn Bryce, Reshef Yakir, Márquez-Luna Carla, O'Connor Luke, Pirinen Matti, Finucane Hilary K, Price Alkes L
Abstract excerpt
Fine-mapping aims to identify causal variants impacting complex traits. We propose PolyFun, a computationally scalable framework to improve fine-mapping accuracy by leveraging functional annotations across the entire genome-not just genome-wide-significant loci-to specify prior probabilities for fine-mapping methods such as SuSiE or FINEMAP. In simulations, PolyFun + SuSiE and PolyFun + FINEMAP were well...
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