Article

TVAR: Assessing Tissue-specific Functional Effects of Non-coding Variants with Deep Learning

2020-12-02

Abstract excerpt

<title>Abstract</title> <p>Analysis of whole genome-sequencing (WGS) for genetics of disease is still a challenge due to lack of accurate functional annotation of noncoding variants, especially the rare ones. As eQTLs have been extensively implicated in genetics of human diseases, we hypothesize that noncoding rare variants discovered in WGS play a regulatory role in predisposing disease risk. With thousands of t...

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Literature Corpus work: 75514e9a-35c4-560e-86ea-1fcaa095f43f
DOI: 10.21203/rs.3.rs-113771/v1

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