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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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| Vydáno v: | BMC Med Genet |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2018
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| 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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