Journal article
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
SF Berkovic, DB Goldstein, EL Heinzen, BL Laughlin, DH Lowenstein, L Lubbers, R Stewart, V Whittemore, K Angione, CW Bazil, L Bier, J Bluvstein, E Brimble, C Campbell, G Cavalleri, C Chambers, H Choi, MR Cilio, M Ciliberto, S Cornes Show all
Epilepsia | WILEY | Published : 2019
DOI: 10.1111/epi.14698
Abstract
Objective: The E (EGI) was formed in 2014 to create a centrally managed database of clinically generated exome sequence data. EGI performs systematic research-based reanalysis to identify new molecular diagnoses that were not possible at the time of initial sequencing and to aid in novel gene discovery. Herein we report on the efficacy of this approach 3 years after inception. Methods: One hundred sixty-six individuals with epilepsy who underwent diagnostic whole exome sequencing (WES) were enrolled, including 139 who had not received a genetic diagnosis. Sequence data were transferred to the EGI and periodically reevaluated on a research basis. Results: Eight new diagnoses were made as a re..
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Awarded by National Institute of Neurological Disorders and Stroke
Funding Acknowledgements
Citizens United for Research in Epilepsy, Grant/Award Number: 339143; National Institute for Neurological Disease and Stroke, Grant/Award Number: U01-NS077303-04S1; The John and Barbara Vogelstein Foundation