ArticlePLoS computational biology2012
Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.
Article in PLoS computational biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Comparison of classic Sanger and next generation sequencing mitotypes of second world war victims from Konfin I mass grave.International journal of legal medicine · 2026Article
- Experience in developing the human genome standard E701.NAR genomics and bioinformatics · 2025Article
- The complete mitochondrial genome of Sinojackia microcarpa: evolutionary insights and gene transfer.BMC genomics · 2025Article
- Review
- High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Environmental Chemical Exposures and Mitochondrial Dysfunction: a Review of Recent Literature.Current environmental health reports · 2022Review
- Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons.Journal of forensic sciences · 2022Article
- Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.Molecular genetics and metabolism · 2022Article
- From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.International journal of molecular sciences · 2021Article
- A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.Scientific reports · 2021Article
- Article
- Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking.International journal of molecular sciences · 2021Article
- Article
- Assessment of mitochondrial DNA heteroplasmy detected on commercial panel using MPS system with artificial mixture samples.International journal of legal medicine · 2018Article
- Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.Frontiers in genetics · 2018Review
- Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?Journal of cancer research and clinical oncology · 2017Review
- mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia.Molecular neurobiology · 2017Article
- Reducing the information gap on Loricarioidei (Siluriformes) mitochondrial genomics.BMC genomics · 2017Article
- Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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