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Article

Quantifying deleterious effects of regulatory variants.

Nucleic acids research - 17 Mar 2017

Li Shan, Alvarez Roberto Vera, Sharan Roded, Landsman David, Ovcharenko Ivan

Abstract excerpt

The majority of genome-wide association study (GWAS) risk variants reside in non-coding DNA sequences. Understanding how these sequence modifications lead to transcriptional alterations and cell-to-cell variability can help unraveling genotype-phenotype relationships. Here, we describe a computational method, dubbed CAPE, which calculates the likelihood of a genetic variant deactivating enhancers by disrupting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27980060
DOI: 10.1093/nar/gkw1263
PMCID: PMC5389506

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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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