Open AccessGenetic Testing Requires NGS and Sanger Methodologies
Author(s) -
Lawrence J. Jennings,
Dawn A. Kirschmann
Publication year - 2016
Publication title -
pediatric neurology briefs
Language(s) - English
Resource type - Journals
eISSN - 2166-6482
pISSN - 1043-3155
DOI - 10.15844/pedneurbriefs-30-9-1
Subject(s) - sanger sequencing , dravet syndrome , exome sequencing , dna sequencing , genetic testing , epilepsy , medicine , genetic diagnosis , computational biology , genetics , psychology , mutation , biology , psychiatry , gene
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.