Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial g...

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Detalhes bibliográficos
Publicado no:Genomics
Main Authors: Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557607/
https://ncbi.nlm.nih.gov/pubmed/23631824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2013.04.013
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