Genetic Disorders
Genetic Testing Requires NGS and Sanger Methodologies
Authors:
- Lawrence J. JenningsEmail Lawrence J. Jennings
- Dawn Kirschmann
Abstract
Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.- Page/Article: 36
- DOI: 10.15844/pedneurbriefs-30-9-1
- Submitted on 2 Sep 2016
- Accepted on 10 Sep 2016
- Published on 13 Sep 2016
- Peer Reviewed