Article
Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.
PLoS computational biology - 1 Jan 2012
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
Abstract excerpt
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 assembly. These methods have been used to study 40 publicly available HapMap samples of European (CEU) and African...
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