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Article

Genic intolerance to functional variation and the interpretation of personal genomes.

PLoS genetics - 1 Jan 2013

Petrovski Slavé, Wang Quanli, Heinzen Erin L, Allen Andrew S, Goldstein David B

Abstract excerpt

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutations, the characteristics of the genes in which those mutations are found remain largely unexplore...

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Identifiers

PMID: 23990802
DOI: 10.1371/journal.pgen.1003709
PMCID: PMC3749936

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-23990802-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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