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

Nature Medicine, Published online: 11 January 2021; doi:10.1038/s41591-020-1133-8

Analysis of 10,900 whole-exome sequences linked to electronic health care records in the Penn Medicine Biobank enabled an exome-wide study of the phenotypic effects of rare loss-of-function gene variants, identifying new gene–disease associations that replicated across other biobanks.
Source: Nature Medicine