FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data.

ABSTRACT: Despite ongoing large-scale population-based whole-genome sequencing (WGS) projects such as the NIH NHLBI TOPMed program and the NHGRI Genome Sequencing Program, WGS-based association analysis of complex traits remains a tremendous challenge due to the large number of rare variants, many of which are non-trait-associated neutral variants. External biological knowledge, such as functional annotations based on the ENCODE, Epigenomics Roadmap and GTEx projects, may be helpful in distinguishing causal rare variants from neutral ones; however, each functional annotation can only provide certain aspects of the biological functions. Our knowledge for selecting informative annotations a priori is limited, and incorporating non-informative annotations will introduce noise and lose power. We propose

SUBMITTER: Ma Y 

PROVIDER: S-EPMC6508749 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature