Genetic Testing Requires NGS and Sanger Methodologies

Lawrence J. Jennings; Dawn Kirschmann

doi:10.15844/pedneurbriefs-30-9-1

Pediatric Neurology Briefs (Sep 2016)

Genetic Testing Requires NGS and Sanger Methodologies

Lawrence J. Jennings,
Dawn Kirschmann

Affiliations

Lawrence J. Jennings: Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL
Dawn Kirschmann: Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL

DOI: https://doi.org/10.15844/pedneurbriefs-30-9-1
Journal volume & issue: Vol. 30, no. 9

Abstract

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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.

Published in Pediatric Neurology Briefs

ISSN: 1043-3155 (Print); 2166-6482 (Online)
Publisher: Pediatric Neurology Briefs Publishers
Country of publisher: United States
LCC subjects: Medicine: Pediatrics; Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: https://pediatricneurologybriefs.com

About the journal

Abstract

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