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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
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Published in PLOS Computational Biology. 2012, vol. 8, no. 10, p. e1002737
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.
Keywords African Continental Ancestry Group/geneticsDNA, Mitochondrial/geneticsDatabases, GeneticEuropean Continental Ancestry Group/geneticsGenetic VariationGenome, Mitochondrial/geneticsGenomics/methodsHapMap ProjectHumansPolymerase Chain ReactionSequence AlignmentSequence Analysis, DNA/methods
PMID: 23133345
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Research group Traits génétiques complexes (901)
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SOSA, Maria Ximena et al. Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency. In: PLOS Computational Biology, 2012, vol. 8, n° 10, p. e1002737. https://archive-ouverte.unige.ch/unige:32235

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Deposited on : 2013-12-17

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