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Article

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.

Human mutation - 1 Nov 2016

Peterson Thomas A, Mort Matthew, Cooper David N, Radivojac Predrag, Kann Maricel G, Mooney Sean D

Abstract excerpt

In silico methods for detecting functionally relevant genetic variants are important for identifying genetic markers of human inherited disease. Much research has focused on protein-coding variants since coding regions have well-defined physicochemical and functional properties. However, many bioinformatics tools are not applicable to variants outside coding regions. Here, we increase the classification...

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Identifiers

PMID: 27406314
DOI: 10.1002/humu.23049
PMCID: PMC6192032

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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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