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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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Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889585/
https://ncbi.nlm.nih.gov/pubmed/29625556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0568-y
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