Journal article

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

Samuel F Berkovic, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Gianpiero Cavalleri, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto, Susannah Cornes Show all

EPILEPSIA | WILEY | Published : 2019


OBJECTIVE: The Epilepsy Genetics Initiative (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 ..

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Awarded by Citizens United for Research in Epilepsy

Awarded by National Institute for Neurological Disease 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