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Article

Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.

Journal of the American Medical Informatics Association : JAMIA - 1 Jan 2000

Crockett David K, Lyon Elaine, Williams Marc S, Narus Scott P, Facelli Julio C, Mitchell Joyce A

Abstract excerpt

The rapid advance of gene sequencing technologies has produced an unprecedented rate of discovery of genome variation in humans. A growing number of authoritative clinical repositories archive gene variants and disease phenotypes, yet there are currently many more gene variants that lack clear annotation or disease association. To date, there has been very limited coverage of gene-specific predictors in the...

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Identifiers

PMID: 22037892
DOI: 10.1136/amiajnl-2011-000309
PMCID: PMC3277614

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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