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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Bibliografiset tiedot
Julkaisussa:Genomics
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
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Article
Linkit: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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