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Article

DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features.

Nature communications - 19 Apr 2023

Luppino Federica, Adzhubei Ivan A, Cassa Christopher A, Toth-Petroczy Agnes

Abstract excerpt

Despite the increasing use of genomic sequencing in clinical practice, the interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VUSs). Computational Variant Effect Predictors (VEPs) provide valuable evidence in variant assessment, but they are prone to misclassifying benign variants, contributing to...

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Identifiers

PMID: 37076482
DOI: 10.1038/s41467-023-37661-z
PMCID: PMC10115847

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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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