The human phenome used in this study is a large electronic health record (EHR-linked cohort, BioVU https://victr.vanderbilt.edu/pub/biovu/). BioVU currently contains >190,000 DNA samples linked to de-identified medical records to provide a large, clinically relevant human resource to study genotype–phenotype associations; 29,722 of these individuals have extant exome variant data, which was used for matched mouse-to-human PheWAS in this study.
