Article

Annotating and prioritizing human non-coding variants with RegulomeDB

2022-10-20

Abstract excerpt

Nearly 90% of the disease risk-associated variants identified from genome-wide association studies (GWAS) are in non-coding regions of the genome. The annotations obtained from analyzing functional genomics assays can provide additional information to pinpoint causal variants, which are often not the lead variants identified from association studies. However, the lack of available annotation tools limits the use o...

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Literature Corpus work: 72c9a4d4-5dbb-5c83-a465-daf0fe6ba929
DOI: 10.1101/2022.10.18.512627

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