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

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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.
Original languageEnglish (US)
JournalGenetics in Medicine
StatePublished - Apr 15 2020
Externally publishedYes

Cite this