Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited disorders. While in research settings NGS has pinpointed causal alleles using segregation in large families, the key challenge for clinical diagnosis is application to single individuals. To explore its diagnos...

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Main Authors: Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.
Format: Artigo
Language:Inglês
Published: 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3523805/
https://ncbi.nlm.nih.gov/pubmed/22277967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3003310
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