An evaluation of noncoding genome annotation tools through enrichment analysis of 15 genome-wide association studies.

ABSTRACT: Functionally annotating genetic variations is an essential yet challenging topic in human genetics research. As large consortia including ENCODE and Roadmap Epigenomics Project continue to generate high-throughput transcriptomic and epigenomic data, many computational frameworks have been developed to integrate these experimental data to predict functionality of genetic variations in both protein-coding and noncoding regions. Here, we compare a number of recently developed annotation frameworks for noncoding regions through enrichment analysis on genome-wide association studies (GWASs). We also compare several different strategies to quantify enrichment using GWAS summary statistics. Our analyses highlight the importance of jointly modeling context-specific annotations with genome-wide dat

SUBMITTER: Li B 

PROVIDER: S-EPMC6585153 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature