phs001551
Epilepsy Genetics Initiative
The Epilepsy Genetics Initiative (EGI) was created in 2014 with the goal of amassing a database of clinically-generated exome sequence data for individuals with epilepsy who have had diagnostic whole exome sequencing. A small subset of individuals in this study were exome sequenced in the research setting. One quad (proband, sibling, and parents) were whole genome sequenced in the research setting. Most of the subjects enrolled in the study did not receive a secure genetic diagnosis from their initial sequencing. Following participant/family consent, EGI transfers raw data from the respective clinical lab to the Institute for Genomic Medicine at Columbia University Medical Center. The strategy of the initiative has been to carry out systematic reanalysis of data to identify new... (for more see dbGaP study page.)