Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations
使用电子健康记录对罕见编码变异进行全外显子组评估，确定新的基因-表型关联
期刊:Nature Medicine
影响因子:58.7
doi:10.1038/s41591-020-1133-8
Joseph Park, Anastasia M Lucas, Xinyuan Zhang, Kumardeep Chaudhary, Judy H Cho, Girish Nadkarni, Amanda Dobbyn, Geetha Chittoor, Navya S Josyula, Nathan Katz, Joseph H Breeyear, Shadi Ahmadmehrabi, Theodore G Drivas, Venkata R M Chavali, Maria Fasolino, Hisashi Sawada, Alan Daugherty, Yanming Li, Ch
