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Article

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2020

Zhong Xue, Yin Zhijun, Jia Gengjie, Zhou Dan, Wei Qiang, Faucon Annika, Evans Patrick, Gamazon Eric R, Li Bingshan, Tao Ran, Rzhetsky Andrey, Bastarache Lisa, Cox Nancy J

Abstract excerpt

PURPOSE: The increasing use of electronic health records (EHRs) and biobanks offers unique opportunities to study Mendelian diseases. We described a novel approach to summarize clinical manifestations from patient EHRs into phenotypic evidence for cystic fibrosis (CF) with potential to alert unrecognized patients of the disease. METHODS: We estimated genetically predicted expression (GReX) of cystic fibrosis...

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32296164
DOI: 10.1038/s41436-020-0786-5
PMCID: PMC7781195

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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