Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency
- 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 Benedikt
- Chakravarti, Aravinda
DOIAbstract
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 (YRI) ancestry to demonstrate a sequencing error rate <5.63×10(-4), nucleotide diversity of 1.6×10(-3) for CEU and 3.7×10(-3) for YRI, patterns of sequence variation consistent with earlier studies, but a higher rate of heteroplasmy varying between 10% and 50%. These results demonstrate that next-generation sequencing technologies allo...
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