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Article

TVAR: assessing tissue-specific functional effects of non-coding variants with deep learning.

Bioinformatics (Oxford, England) - 14 Oct 2022

Yang Hai, Chen Rui, Wang Quan, Wei Qiang, Ji Ying, Zhong Xue, Li Bingshan

Abstract excerpt

MOTIVATION: Analysis of whole-genome sequencing (WGS) for genetics is still a challenge due to the lack of accurate functional annotation of non-coding variants, especially the rare ones. As eQTLs have been extensively implicated in the genetics of human diseases, we hypothesize that rare non-coding variants discovered in WGS play a regulatory role in predisposing disease risk. RESULTS: With thousands of tissue-...

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PMID: 36063453
DOI: 10.1093/bioinformatics/btac608
PMCID: PMC9563698

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