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Article

LSMM: a statistical approach to integrating functional annotations with genome-wide association studies.

Bioinformatics (Oxford, England) - 15 Aug 2018

Ming Jingsi, Dai Mingwei, Cai Mingxuan, Wan Xiang, Liu Jin, Yang Can

Abstract excerpt

Motivation: Thousands of risk variants underlying complex phenotypes (quantitative traits and diseases) have been identified in genome-wide association studies (GWAS). However, there are still two major challenges towards deepening our understanding of the genetic architectures of complex phenotypes. First, the majority of GWAS hits are in non-coding region and their biological interpretation is still unclear....

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PMID: 29608640
DOI: 10.1093/bioinformatics/bty187

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