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Article

A semi-supervised model to predict regulatory effects of genetic variants at single nucleotide resolution using massively parallel reporter assays.

Bioinformatics (Oxford, England) - 4 Aug 2021

Yang Zikun, Wang Chen, Erjavec Stephanie, Petukhova Lynn, Christiano Angela, Ionita-Laza Iuliana

Abstract excerpt

MOTIVATION: Predicting regulatory effects of genetic variants is a challenging but important problem in functional genomics. Given the relatively low sensitivity of functional assays, and the pervasiveness of class imbalance in functional genomic data, popular statistical prediction models can sharply underestimate the probability of a regulatory effect. We describe here the presence-only model (PO-EN), a type of...

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PMID: 33515242
DOI: 10.1093/bioinformatics/btab040
PMCID: PMC8337004

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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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