An evaluation of noncoding genome annotation tools through enrichment analysis of 15 genome-wide association studies.
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ABSTRACT:
SUBMITTER: Li B
PROVIDER: S-EPMC6585153 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Publications
An evaluation of noncoding genome annotation tools through enrichment analysis of 15 genome-wide association studies.
Li Boyang B Lu Qiongshi Q Zhao Hongyu H
Briefings in bioinformatics 20190501 3
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 ...[more]
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