作者
Ruth Johnson, Huwenbo Shi, Bogdan Pasaniuc, Sriram Sankararaman
发表日期
2018/7/1
期刊
Bioinformatics
卷号
34
期号
13
页码范围
i195-i201
出版商
Oxford University Press
简介
Motivation
A large proportion of risk regions identified by genome-wide association studies (GWAS) are shared across multiple diseases and traits. Understanding whether this clustering is due to sharing of causal variants or chance colocalization can provide insights into shared etiology of complex traits and diseases.
Results
In this work, we propose a flexible, unifying framework to quantify the overlap between a pair of traits called UNITY (Unifying Non-Infinitesimal Trait analYsis). We formulate a Bayesian generative model that relates the overlap between pairs of traits to GWAS summary statistic data under a non-infinitesimal genetic architecture underlying each trait. We propose a Metropolis–Hastings sampler to compute the posterior density of the genetic overlap parameters in this model. We validate our method through comprehensive simulations and analyze summary …
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