The proposed central genome sequencing and genotyping facility will perform DNA sequence generation on 25,000 patients over four years for the Electronic Medical Records and Genomics (eMERGE) Network. We will use a custom panel approach to target selected DNA regions specified by the eMERGE Network and provide high quality sequence data produced under CLIA/CAP diagnostic laboratory conditions. We will also provide reports of significant results, including both incidental and pathogenic findings, which will be able to be incorporated into patient records. Over the course of the project, we will work with the eMERGE clinical sites, coordinating center, and the NHGRI to ensure the overall Network goals are addressed by updating our sequencing approach to address new regions of interest and/or new sequencing technologies that become available.
The mission of the Electronic Medical Records and Genomics (eMERGE) Network is to integrate the use of genomic methods into clinical practice, by melding of clinical phenotype data, including recognition of environmental exposure, with the full knowledge of DNA variation. The proposed central genome sequencing and genotyping facility will provide DNA sequence data for eMERGE patients from selected genomic regions, as the foundation for further eMERGE activities. The data will be highly accurate, generated in a regulated clinical diagnostic laboratory (i.e. CLIA/CAP approved) and able to be incorporated into patient records. The proposed facility?s investigators will work with the eMERGE clinical sites, the coordinating center and NHGRI to accomplish the shared goals of the eMERGE Network.
| Fossey, Robyn; Kochan, David; Winkler, Erin et al. (2018) Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med 8: |
| Wei, Wei-Qi; Li, Xiaohui; Feng, Qiping et al. (2018) LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. Circulation 138:1839-1849 |
| Wang, Liuyang; Pittman, Kelly J; Barker, Jeffrey R et al. (2018) An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. Cell Host Microbe 24:308-323.e6 |
| Wan, Zhiyu; Vorobeychik, Yevgeniy; Xia, Weiyi et al. (2017) Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach. Am J Hum Genet 100:316-322 |
