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

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 extremely difficult. A recent study analysed a cohort of patients affected by a mitochondrial disease using a NGS approach based on a targeted gene panel including 132 genes. This strategy led to identify the causative mutations in 15.2% of cases. The number of novel genes responsible for respiratory chain deficiency increases very rapidly. METHODS:In order to determine the impact of larger panels used as a first screening strategy on molecular diagnosis success, we analysed a cohort of 80 patients affected by a

SUBMITTER: Plutino M 

PROVIDER: S-EPMC5889585 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature