Epi25 Clinical Phenotyping R03

University Of California, San Francisco, San Francisco CA

Investigators

Linked publications, trials & patents

Abstract

PROJECT SUMMARY Clinical genetic data suggests that specific categories of epilepsy have genetic contributors, and there may be some overlap between categories. The Epi25 Collaborative was formed among more than 40 cohorts from around the world to sequence as many as 25,000 genomes or exomes. As of 2017, the collaborative has sequenced more than 13,000 exomes and clinical data has been collected for more than 8,000 cases. This project will complete the collection and review of the clinical data for each sample in the Epi25 collection to facilitate the translation of genomic and clinical discoveries into improved care for patients. The clinical and genomic data from Epi25 will be a global resource, shared with the research community for years to come. Epi25's governance structure, membership, and other information are available online at www.epi-25.org. In this project, clinical data is entered by contributors into Red Cap forms or uploaded directly into the Epi25 database. The clinical data is then checked by a computer algorithm that looks for key eligibility criteria for each participant. Errors and missing data are sent to the Phenotyping Coordinator to review and resolve, with the help of the contributing site.