Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

• Main Authors: Morgane Plutino (Author), Annabelle Chaussenot (Author), Cécile Rouzier (Author), Samira Ait- (Author), Konstantina Fragaki (Author), Véronique Paquis-Flucklinger (Author), Sylvie Bannwarth (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial diseases. The comparison between these different strategies is extremel...