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Article

Identification of pathogenic variant enriched regions across genes and gene families.

Genome research - 1 Jan 2020

Pérez-Palma Eduardo, May Patrick, Iqbal Sumaiya, Niestroj Lisa-Marie, Du Juanjiangmeng, Heyne Henrike O, Castrillon Jessica A, O'Donnell-Luria Anne, Nürnberg Peter, Palotie Aarno, Daly Mark, Lal Dennis

Abstract excerpt

Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene-family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2871 gene-family protein sequence alignments involving 9990 genes and performed missense variant burden analyses to identify novel essential protein regions. We mapped...

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Identifiers

PMID: 31871067
DOI: 10.1101/gr.252601.119
PMCID: PMC6961572

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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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