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

5 Apr 2019

Abstract excerpt

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:...

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PMID: 30951195
DOI: 10.1111/epi.14698

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