Litcius/Paper detail

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Joseph Park, Anastasia Lucas, Xinyuan Zhang, Kumardeep Chaudhary, Judy H. Cho, Girish N. Nadkarni, Amanda Dobbyn, Geetha Chittoor, Navya Shilpa Josyula, Nathan Katz, Joseph H. Breeyear, Shadi Ahmadmehrabi, Theodore G. Drivas, Venkata Ramana Murthy Chavali, Maria Fasolino, Hisashi Sawada, Alan Daugherty, Yanming Li, Chen Zhang, Yuki Bradford, JoEllen Weaver, Anurag Verma, Renae Judy, Rachel L. Kember, John D. Overton, Jeffrey G. Reid, Manuel A. R. Ferreira, Alexander Li, Aris Baras, Scott A. LeMaire, Ying H. Shen, Ali Naji, Klaus H. Kaestner, Golnaz Vahedi, Todd L. Edwards, Jinbo Chen, Scott M. Damrauer, Anne E. Justice, Ron Do, Marylyn D. Ritchie, Daniel J. Rader

2021Nature Medicine65 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypeExomeExome sequencingGeneGeneticsHealth recordsClinical phenotypeCoding (social sciences)Computational biologyBioinformaticsMedicineBiologyHealth careEconomic growthMathematicsEconomicsStatisticsGenomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities