Ontology highlight
ABSTRACT:
SUBMITTER: Park J
PROVIDER: S-EPMC8775355 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Park Joseph J Lucas Anastasia M AM Zhang Xinyuan X Chaudhary Kumardeep K Cho Judy H JH Nadkarni Girish G Dobbyn Amanda A Chittoor Geetha G Josyula Navya S NS Katz Nathan N Breeyear Joseph H JH Ahmadmehrabi Shadi S Drivas Theodore G TG Chavali Venkata R M VRM Fasolino Maria M Sawada Hisashi H Daugherty Alan A Li Yanming Y Zhang Chen C Bradford Yuki Y Weaver JoEllen J Verma Anurag A Judy Renae L RL Kember Rachel L RL Overton John D JD Reid Jeffrey G JG Ferreira Manuel A R MAR Li Alexander H AH Baras Aris A LeMaire Scott A SA Shen Ying H YH Naji Ali A Kaestner Klaus H KH Vahedi Golnaz G Edwards Todd L TL Chen Jinbo J Damrauer Scott M SM Justice Anne E AE Do Ron R Ritchie Marylyn D MD Rader Daniel J DJ
Nature medicine 20210111 1
The clinical impact of rare loss-of-function variants has yet to be determined for most genes. Integration of DNA sequencing data with electronic health records (EHRs) could enhance our understanding of the contribution of rare genetic variation to human disease<sup>1</sup>. By leveraging 10,900 whole-exome sequences linked to EHR data in the Penn Medicine Biobank, we addressed the association of the cumulative effects of rare predicted loss-of-function variants for each individual gene on human ...[more]