"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."

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