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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Bibliographic Details
Main Authors: Maria Ximena Sosa, I K Ashok Sivakumar, Samantha Maragh, Vamsi Veeramachaneni, Ramesh Hariharan, Minothi Parulekar, Karin M Fredrikson, Timothy T Harkins, Jeffrey Lin, Andrew B Feldman, Pramila Tata, Georg B Ehret, Aravinda Chakravarti
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS Computational Biology
Online Access:http://europepmc.org/articles/PMC3486893?pdf=render