Epi25 Version 4 Data Release on the AnVIL Platform
A new release from the Epi25 Consortium (epi-25.org) is now available on AnVIL for controlled-access by the broader scientific community.
Epi25 was formed as a collaborative of over 200 partners from over 70 international research cohorts with the goal of investigating the genetic basis of rare and complex epilepsies. As part of the NHGRI Centers for Common Disease Genomics (2016-2020), Epi25 aggregated a global sample collection from these cohorts for whole genome genotyping and whole exome sequencing (WES) at the Broad Institute (Cambridge, MA), initiating the largest and most ethnically diverse genetic study of epilepsy to date. The primary epilepsy phenotypes for Epi25 are based on strict standards agreed upon by the epilepsy community, and each cohort team also provided detailed phenotypic data using standardized data collection forms developed by the collaborative.
In v4 of this AnVIL study, we released whole genome genotype data on over 30,000 Epi25 participants, generated using Illumina’s Infinium GSA-MD v1 platform. In addition, detailed clinical phenotypes related to epilepsy diagnosis were uploaded to the AnVIL Workspaces for both the GSA data as well as the whole exome sequencing (WES) data previously released in v3.
Access requests for this controlled data are available through dbGaP under accession phs001489.v4.p2 and the data is available at https://explore.anvilproject.org/datasets or https://duos.org/datalibrary/anvil.
In addition to the individual-level data available on AnVIL, the publicly available open-access results browser (https://epi25.broadinstitute.org/) displays the latest findings from the case-control analyses of the WES data, with both gene-level and variant-level results available for direct download.
Acknowledgements
The Epi25 Acknowledgements statement is available at the dbGaP study page. More information about eligibility criteria and phenotyping forms for Epi25, as well as the contributing centers, can be found here: epi-25.org.