Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.

ABSTRACT: The Electronic Medical Records and Genomics (eMERGE) Network, established in 2007, is a consortium of academic and integrated health systems conducting discovery and implementation research in translational genomics. Here, we outline the history of the network, highlight major impacts and lessons learned, and present the tools and resources developed for large-scale genomic analyses and translation into a clinical setting. The network developed methods to extract phenotypes from the electronic medical record to perform genome-wide and phenome-wide association studies. Recruited cohorts were clinically sequenced off a custom panel for targeted sequencing of variants and monogenic disease risks and returned to participants to investigate the impact of return of genomic results. After generat

SUBMITTER: eMERGE [e-mail] 

PROVIDER: S-EPMC8756524 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature