Article
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
BMC medical genetics - 7 Apr 2018
Plutino Morgane, Chaussenot Annabelle, Rouzier Cécile, Ait-El-Mkadem Samira, Fragaki Konstantina, Paquis-Flucklinger Véronique, Bannwarth Sylvie
Abstract excerpt
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...
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