Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency

We describe methods for rapid sequencing of the entire human mitochondrial genome (mtgenome), which involve long-range PCR for specific amplification of the mtgenome, pyrosequencing, quantitative mapping of sequence reads to identify sequence variants and heteroplasmy, as well as de novo sequence as...

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Detalhes bibliográficos
Main Authors: Sosa, Maria Ximena, Sivakumar, I. K. Ashok, Maragh, Samantha, Veeramachaneni, Vamsi, Hariharan, Ramesh, Parulekar, Minothi, Fredrikson, Karin M., Harkins, Timothy T., Lin, Jeffrey, Feldman, Andrew B., Tata, Pramila, Ehret, Georg B., Chakravarti, Aravinda
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3486893/
https://ncbi.nlm.nih.gov/pubmed/23133345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1002737
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