Meeting Details
Date: 25-01-08
Time: 11:00-12:00
Location: Hybrid: Rm 6E032/34 and via Teams
Presenter: Dr. Douglas Stewart
The Geisinger DiscovEHR cohort: 233,185 people with exome sequencing and longitudinal EHR data
Geisinger is an integrated health system serving patients in Northeastern and Central Pennsylvania; patients are eligible to participate in the MyCode Community Health Initiative, a system-wide biorepository of blood and DNA samples for broad research purposes. The DiscovEHR cohort consists of a subset of individuals who consented to participate in the Geisinger MyCode Community Health Initiative and who have exome- and EHR-linked data. Exome sequencing was performed in collaboration with the Regeneron Genetics Center on a total of 233,185 participants. Genetic and clinical data from this cohort is being used by DCEG investigators for a variety of studies.
Recommended Readings:
Kim, S. Y., Kim, J., Ramos, M., Haley, J., Smelser, D., Rao, H. S., Mirshahi, U. L., Geisinger-Regeneron DiscovEHR Collaboration, Graubard, B. I., Katki, H. A., Carey, D., & Stewart, D. R. (2024). Genomic ascertainment of CHEK2-related cancer predisposition. medRxiv: The Preprint Server for Health Sciences, 2024.08.07.24311613. https://doi.org/10.1101/2024.08.07.24311613
Carey, D. J., Fetterolf, S. N., Davis, F. D., Faucett, W. A., Kirchner, H. L., Mirshahi, U., Murray, M. F., Smelser, D. T., Gerhard, G. S., & Ledbetter, D. H. (2016). The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 18(9), 906–913. https://doi.org/10.1038/gim.2015.187
Näslund-Koch, C., Nordestgaard, B. G., & Bojesen, S. E. (2016). Increased risk for other cancers in addition to breast cancer for CHEK2*1100delC heterozygotes estimated from the Copenhagen General Population Study. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 34(11), 1208–1216. https://doi.org/10.1200/JCO.2015.63.3594
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(5), 405–424. https://doi.org/10.1038/gim.2015.30