• Login
    View Item 
    •   Home
    • Office of Sponsored Research (OSR)
    • KAUST Funded Research
    • Publications Acknowledging KAUST Support
    • View Item
    •   Home
    • Office of Sponsored Research (OSR)
    • KAUST Funded Research
    • Publications Acknowledging KAUST Support
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Browse

    All of KAUSTCommunitiesIssue DateSubmit DateThis CollectionIssue DateSubmit Date

    My Account

    Login

    Quick Links

    Open Access PolicyORCID LibguideTheses and Dissertations LibguideSubmit an Item

    Statistics

    Display statistics

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

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Type
    Article
    Authors
    Zhong, Xue cc
    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.
    Date
    2020-04-16
    Online Publication Date
    2020-04-16
    Print Publication Date
    2020-07
    Embargo End Date
    2020-10-15
    Submitted Date
    2019-09-17
    Permanent link to this record
    http://hdl.handle.net/10754/662598
    
    Metadata
    Show full item record
    Abstract
    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.
    Citation
    Zhong, 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
    Sponsors
    This 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.
    Publisher
    Springer Nature
    Journal
    Genetics in Medicine
    DOI
    10.1038/s41436-020-0786-5
    Additional Links
    http://www.nature.com/articles/s41436-020-0786-5
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41436-020-0786-5
    Scopus Count
    Collections
    Publications Acknowledging KAUST Support

    entitlement

     
    DSpace software copyright © 2002-2022  DuraSpace
    Quick Guide | Contact Us | KAUST University Library
    Open Repository is a service hosted by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items. For anonymous users the allowed maximum amount is 50 search results.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.