Title |
Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency
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Published in |
PLoS Computational Biology, October 2012
|
DOI | 10.1371/journal.pcbi.1002737 |
Pubmed ID | |
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 |
Abstract |
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 allow interrogation of the mitochondrial genome in greater depth than previously possible which may be of value in biology and medicine. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 14% |
Australia | 1 | 14% |
Peru | 1 | 14% |
Germany | 1 | 14% |
Unknown | 3 | 43% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 43% |
Scientists | 3 | 43% |
Science communicators (journalists, bloggers, editors) | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 7 | 5% |
Italy | 2 | 1% |
Brazil | 2 | 1% |
Switzerland | 1 | <1% |
Sweden | 1 | <1% |
South Africa | 1 | <1% |
Ireland | 1 | <1% |
Sri Lanka | 1 | <1% |
United Kingdom | 1 | <1% |
Other | 2 | 1% |
Unknown | 130 | 87% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 45 | 30% |
Researcher | 35 | 23% |
Professor > Associate Professor | 12 | 8% |
Student > Bachelor | 11 | 7% |
Student > Master | 10 | 7% |
Other | 25 | 17% |
Unknown | 11 | 7% |
Readers by discipline | Count | As % |
---|---|---|
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Biochemistry, Genetics and Molecular Biology | 36 | 24% |
Medicine and Dentistry | 7 | 5% |
Computer Science | 5 | 3% |
Engineering | 3 | 2% |
Other | 5 | 3% |
Unknown | 15 | 10% |