Ontology highlight
ABSTRACT:
SUBMITTER: Stosser MB
PROVIDER: S-EPMC5895461 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Stosser Mary Beth MB Lindy Amanda S AS Butler Elizabeth E Retterer Kyle K Piccirillo-Stosser Caitlin M CM Richard Gabriele G McKnight Dianalee A DA
Genetics in medicine : official journal of the American College of Medical Genetics 20170824 4
PurposeMosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic lab ...[more]