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Article

Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations.

PloS one - 1 Jan 2014

Mosley Jonathan D, Van Driest Sara L, Weeke Peter E, Delaney Jessica T, Wells Quinn S, Bastarache Lisa, Roden Dan M, Denny Josh C

Abstract excerpt

The coupling of electronic medical records (EMR) with genetic data has created the potential for implementing reverse genetic approaches in humans, whereby the function of a gene is inferred from the shared pattern of morbidity among homozygotes of a genetic variant. We explored the feasibility of this approach to identify phenotypes associated with low frequency variants using Vanderbilt's EMR-based BioVU...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24949630
DOI: 10.1371/journal.pone.0100322
PMCID: PMC4065041

Genes

CNGB3
HGFAC
MAF

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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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