Distribution and clinical impact of functional variants in 50,726 whole exome sequences from the DiscovEHR study. F. Dewey, M. Murray, J. Overton, L. Habegger, J. Leader, S. Fetterolf, C. O'Dushlaine, C. Van Hout, J. Staples, R. Metpally, H.L. Kirchner, S. Pendergrass, C. Gonzaga-Jauregui, S. Balasubramanian, A. Lopez, J. Penn, S. Mukherjee, N. Gosalia, A. Li, S. Bruse, K. Praveen, I. Borecki, G. Yancopoulos, O. Gottesman, M. Ritchie, A. Shuldiner, J. Reid, D. Ledbetter, A. Baras, D. Carey, DiscovEHR Collaboration. ASHG, 2016
Participants for DiscovEHR were recruited as part of the MyCode Community Health Initiative. These participants are patients in Geisinger Health System, with a wide variety of health conditions. Participants were not selected based on any specific disease or condition, but rather broadly recruited from both primary and specialty clinics in the health system. Currently in the DiscovEHR browser, whole exome sequencing has been performed on over 50,000 individuals.

Geisinger Phenomics and Data Analytics Team

  • Lance J. Adams
  • H. Lester Kirchner
  • Daniel R. Lavage
  • Joseph B. Leader
  • John Snyder
  • Derek Boris
  • Dustin N. Hartzel
  • Joseph Neil A. Mañus
  • Catarina B. Manney

MyCode® Community Health Initiative Consenting Team

Geisinger Patient Partners

DNAnexus staff

  • Dave Hotlosz