Epi25 is a collaborative of more than 200 partners from 40 research cohorts from around the world. More than 14,000 exomes have been sequenced as part of this collaborative effort. We expect to find evidence that accurate and detailed phenotypic data reduces genetic heterogeneity, allows for identification of a well-matched replication cohort, and clarifies the phenotypic spectrum associated with a gene. This approach will help us address fundamental questions about the importance of rare variants, common variants, or de novo changes as the basis for specific forms of epilepsy.
The driving principle behind the Epi25 Collaborative for Large-Scale Whole Genome Sequencing in Epilepsy (Epi25 Collaborative) is that through collaboration and synergy, collectively we will make more rapid progress towards fully understanding the inherited components of epilepsy than can be achieved individually.
Epi25 is working to deepen the roots of an international community of individuals committed to curing epilepsy. We are working to establish precedents for sharing of materials, ideas, and data—across political and geographic boundaries and with the requirement of public access to the sequence and phenotypic data. The innovations to collection and management of clinical data and the governance structures in the Epi25 collaborative will facilitate, inform, and shape future partnerships in epilepsy research.