ReviewForensic science international. Genetics2015
Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing.
Review in Forensic science international. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed.
- Pedigree-Based comparison of short-read and long-read sequencing for forensic mitochondrial genome analysis.International journal of legal medicine · 2026Article
- Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.Circulation research · 2026Review
- Review
- Mito_Plot: open-source pipeline for quantification and visualization of mitochondrial DNA heteroplasmy.BMC bioinformatics · 2026Article
- Review
- Article
- Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDels.Human mutation · 2026Article
- Internal Validation of Mitochondrial DNA Control Region Using the Precision ID mtDNA Control Region Panel.Genes · 2025Article
- Pervasive non-random mitochondrial DNA heteroplasmy in the hybrid water frog Pelophylax esculentus.BMC ecology and evolution · 2025Article
- Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population.Archives of Iranian medicine · 2025Article
- Comparisons of aged samples and modern references provide algorithm for mtDNA analysis in challenging material.Scientific reports · 2025Article
- Article
- Next-generation sequencing-based tools or nanopore-based tools: which is more suitable for short tandem repeats genotyping of nanopore sequencing?Bioinformatics advances · 2025Article
- A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.Journal of translational medicine · 2024Article
- Mitochondrial point heteroplasmy: insights from deep-sequencing of human replicate samples.BMC genomics · 2024Article
- Whole mitochondrial genome analyses of Han population from Shandong of China using massively parallel sequencing.Frontiers in genetics · 2024Article
- MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer's Disease Sequencing Project.Journal of Alzheimer's disease reports · 2024Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- Review: Computational analysis of human skeletal remains in ancient DNA and forensic genetics.iScience · 2023Review
- Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Long an important and useful tool in forensic genetic investigations, mitochondrial DNA (mtDNA) typing continues to mature. Research in the last few years has demonstrated both that data from the entire molecule will have practical benefits in forensic DNA casework, and that massively parallel sequencing (MPS) methods will make full mitochondrial genome (mtGenome) sequencing of forensic specimens feasible and cost-effective. A spate of recent studies has employed these new technologies to assess intraindividual mtDNA variation. However, in several instances, contamination and other sources of mixed mtDNA data have been erroneously identified as heteroplasmy. Well vetted mtGenome datasets based on both Sanger and MPS sequences have found authentic point heteroplasmy in approximately 25% of individuals when minor component detection thresholds are in the range of 10-20%, along with positional distribution patterns in the coding region that differ from patterns of point heteroplasmy in the well-studied control region. A few recent studies that examined very low-level heteroplasmy are concordant with these observations when the data are examined at a common level of resolution. In this review we provide an overview of considerations related to the use of MPS technologies to detect mtDNA heteroplasmy. In addition, we examine published reports on point heteroplasmy to characterize features of the data that will assist in the evaluation of future mtGenome data developed by any typing method.
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