DiscovEHR


NAR Molecular Biology Database Collection entry number 1995
Geisinger Clinic and Regeneron Genetics Center LLC

Database Description

The DiscovEHR Collaboration between the Regeneron Genetics Center and Geisinger Health System 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 50,000 MyCode® participants to date, we have identified more than 4 million rare single nucleotide variants and insertion-deletion events, of which over 176,000 are predicted to result in loss of gene function.
Variant frequency data is available 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). In addition, the ability to search by gene, rs#, and position is available. The DiscovEHR portal will serve as a valuable resource for the genetics community for both discovery research and clinical applications.

References

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study (2016) Science Vol. 354, Issue 6319, DOI: 10.1126/science.aaf6814


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