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Article

Predicting target genes of non-coding regulatory variants with IRT.

Bioinformatics (Oxford, England) - 15 Aug 2020

Wu Zhenqin, Ioannidis Nilah M, Zou James

Abstract excerpt

SUMMARY: Interpreting genetic variants of unknown significance (VUS) is essential in clinical applications of genome sequencing for diagnosis and personalized care. Non-coding variants remain particularly difficult to interpret, despite making up a large majority of trait associations identified in genome-wide association studies (GWAS) analyses. Predicting the regulatory effects of non-coding variants on...

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PMID: 32330225
DOI: 10.1093/bioinformatics/btaa254
PMCID: PMC7575052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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