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

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 diffic...

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Detalles Bibliográficos
Autores principales:	Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889585/ https://www.ncbi.nlm.nih.gov/pubmed/29625556 http://dx.doi.org/10.1186/s12881-018-0568-y

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