ArticleHuman mutation2015
Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 62 citations in OpenAlex.
- Review
- Forensic genetics in the omics era.Nature reviews. Genetics · 2026Review
- 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
- Global and Local Ancestry and its Importance: A Review.Current genomics · 2024Review
- DNA and protein analyses of hair in forensic genetics.International journal of legal medicine · 2023Review
- From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.International journal of molecular sciences · 2021Article
- Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.Cardiovascular ultrasound · 2021Article
- Developmental Validation of a MPS Workflow with a PCR-Based Short Amplicon Whole Mitochondrial Genome Panel.Genes · 2020Article
- Article
- Article
- Massively parallel sequencing-enabled mixture analysis of mitochondrial DNA samples.International journal of legal medicine · 2018Article
- Article
- Article
- MPS analysis of the mtDNA hypervariable regions on the MiSeq with improved enrichment.International journal of legal medicine · 2017Article
- MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy.BMC genomics · 2017Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole mitochondrial (mt) genome analysis enables a considerable increase in analysis throughput, and improves the discriminatory power to the maximum possible phylogenetic resolution. Most established protocols on the different massively parallel sequencing (MPS) platforms, however, invariably involve the PCR amplification of large fragments, typically several kilobases in size, which may fail due to mtDNA fragmentation in the available degraded materials. We introduce a MPS tiling approach for simultaneous whole human mt genome sequencing using 161 short overlapping amplicons (average 200 bp) with the Ion Torrent Personal Genome Machine. We illustrate the performance of this new method by sequencing 20 DNA samples belonging to different worldwide mtDNA haplogroups. Additional quality control, particularly regarding the potential detection of nuclear insertions of mtDNA (NUMTs), was performed by comparative MPS analysis using the conventional long-range amplification method. Preliminary sensitivity testing revealed that detailed haplogroup inference was feasible with 100 pg genomic input DNA. Complete mt genome coverage was achieved from DNA samples experimentally degraded down to genomic fragment sizes of about 220 bp, and up to 90% coverage from naturally degraded samples. Overall, we introduce a new approach for whole mt genome MPS analysis from degraded and nondegraded materials relevant to resolve and infer maternal genetic ancestry at complete resolution in anthropological, evolutionary, medical, and forensic applications.
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