The Penn Medicine BioBank brings together high throughput DNA sequencing with longitudinal electronic health records for discovery of genetic variation important for human disease and therapeutic response. This powerful combination serves as a blueprint for large-scale precision medicine research and genomic medicine implementation. Through the sequencing of exomes from more than 10,000 Penn Medicine participants to date, we have identified more than 4.2 million rare single nucleotide variants and insertion-deletion events, of which over 85,000 are predicted to result in loss of gene function. Through genome-wide SNP arrays and imputation for more than 19,500 Penn Medicine participants to date, we have identified more than 39 million common variants.
In this browser, variant frequency data is available for the exome sequence and imputed datasets to enable allele frequency comparisons with other population-based and biobank resources. A complete variant call file is available with allele frequencies (exact for MAF > 0.001 and binned for <0.001) on the Download tab. In addition, the ability to search by gene, rs#, and position is available through the browser. The portal will serve as a valuable resource for the genetics community for both discovery research and clinical applications.
We are thankful to the participants of the Penn Medicine BioBank.