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Article

EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.

Nucleic acids research - 11 Mar 2015

Rackham Owen J L, Shihab Hashem A, Johnson Michael R, Petretto Enrico

Abstract excerpt

Methods to interpret personal genome sequences are increasingly required. Here, we report a novel framework (EvoTol) to identify disease-causing genes using patient sequence data from within protein coding-regions. EvoTol quantifies a gene's intolerance to mutation using evolutionary conservation...

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Identifiers

PMID: 25550428
DOI: 10.1093/nar/gku1322
PMCID: PMC4357693

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25550428-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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