ArticleForensic science international. Genetics2014
Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq.
Article in Forensic science international. Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
- Review
- Forensic genetics in the omics era.Nature reviews. Genetics · 2026Review
- Comparative Analysis of Physicochemical Properties, Sensory Characteristics, and Microbial Communities in Jiupei Fermented with the Peel and Core of Houhuo Daqu.Current microbiology · 2026Article
- Assessing the feasibility of free DNA for disaster victim identification and forensic applications.Scientific reports · 2024Article
- Discrimination of monozygotic twins using mtDNA heteroplasmy through probe capture enrichment and massively parallel sequencing.International journal of legal medicine · 2023Article
- Human whole mitochondrial genome sequencing and analysis: optimization of the experimental workflow.Croatian medical journal · 2022Article
- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
- Massively parallel sequencing of Cannabis sativa chloroplast hotspots for forensic typing.Journal of cannabis research · 2022Article
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- Mitochondrial genome sequencing with short overlapping amplicons on MiSeq FGx system.Forensic sciences research · 2022Article
- iPSC culture expansion selects against putatively actionable mutations in the mitochondrial genome.Stem cell reports · 2021Article
- Benchmarking laboratory processes to characterise low-biomass respiratory microbiota.Scientific reports · 2021Article
- Assessment of Illumina® Human mtDNA Genome assay: workflow evaluation with development of analysis and interpretation guidelines.International journal of legal medicine · 2021Article
- Article
- Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking.International journal of molecular sciences · 2021Article
- Damage patterns observed in mtDNA control region MPS data for a range of template concentrations and when using different amplification approaches.International journal of legal medicine · 2021Article
- Article
- Massive parallel sequencing in forensics: advantages, issues, technicalities, and prospects.International journal of legal medicine · 2020Review
- Unraveling heteroplasmy patterns with NOVOPlasty.NAR genomics and bioinformatics · 2020Article
- Estimation of the number of contributors to mixed samples of DNA by mitochondrial DNA analyses using massively parallel sequencing.International journal of legal medicine · 2020Article
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8 authors.
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Abstract
The development of molecular tools to detect and report mitochondrial DNA (mtDNA) heteroplasmy will increase the discrimination potential of the testing method when applied to forensic cases. The inherent limitations of the current state-of-the-art, Sanger-based sequencing, including constrictions in speed, throughput, and resolution, have hindered progress in this area. With the advent of next-generation sequencing (NGS) approaches, it is now possible to clearly identify heteroplasmic variants, and at a much lower level than previously possible. However, in order to bring these approaches into forensic laboratories and subsequently as accepted scientific information in a court of law, validated methods will be required to produce and analyze NGS data. We report here on the development of an optimized approach to NGS analysis for the mtDNA genome (mtgenome) using the Illumina MiSeq instrument. This optimized protocol allows for the production of more than 5 gigabases of mtDNA sequence per run, sufficient for detection and reliable reporting of minor heteroplasmic variants down to approximately 0.5-1.0% when multiplexing twelve samples. Depending on sample throughput needs, sequence coverage rates can be set at various levels, but were optimized here for at least 5000 reads. In addition, analysis parameters are provided for a commercially available software package that identify the highest quality sequencing reads and effectively filter out sequencing-based noise. With this method it will be possible to measure the rates of low-level heteroplasmy across the mtgenome, evaluate the transmission of heteroplasmy between the generations of maternal lineages, and assess the drift of variant sequences between different tissue types within an individual.
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