Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis
Gamazon, Eric R.
Cox, Nancy J.
Online Publication Date2020-04-16
Print Publication Date2020-07
Embargo End Date2020-10-15
Permanent link to this recordhttp://hdl.handle.net/10754/662598
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AbstractThe 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.
CitationZhong, X., Yin, Z., Jia, G., Zhou, D., Wei, Q., Faucon, A., … Cox, N. J. (2020). Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genetics in Medicine. doi:10.1038/s41436-020-0786-5
SponsorsThis work was funded by the National Institutes of Health (NIH) grants R01MH113362, U01HG009086, R35HG010718, R01HL122712, 1P50MH094267, and U01HL108634-01. A.R. also acknowledges support from the Defense Advanced Research Projects Agency (DARPA) Big Mechanism program under Army Research Office (ARO) contract W911NF1410333, the King Abdullah University of Science and Technology (KAUST), and a gift from Liz and Kent Dauten. BioVU and the Synthetic Derivative of Vanderbilt University Medical Center are supported by the National Center for Advancing Translational Science grant UL1TR000445 from NIH; the genotypes in BioVU used for the analyses described were funded by NIH grants RC2GM092618 and U01HG004603.
JournalGenetics in Medicine