ArticleInternational journal of legal medicine2021
Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.
Article in International journal of legal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Precision ID mtDNA Whole Genome Panel and sequencing of telogen hairs - perspectives for validation and implementation in casework.International journal of legal medicine · 2026Article
- Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction.Genes · 2026Review
- Article
- A full-length mtDNA dataset for studying genetic variations across generations and complex family structures.Scientific data · 2026Article
- Internal Validation of Mitochondrial DNA Control Region Using the Precision ID mtDNA Control Region Panel.Genes · 2025Article
- Comparisons of aged samples and modern references provide algorithm for mtDNA analysis in challenging material.Scientific reports · 2025Article
- Article
- CD4Scientific reports · 2024Article
- Comparison of Two Variant Analysis Programs for Next-Generation Sequencing Data of Whole Mitochondrial Genome.Journal of Korean medical science · 2023Article
- Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019-2022.Forensic science international. Synergy · 2023Article
- From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the recent advances in next-generation sequencing (NGS), mitochondrial whole-genome sequencing has begun to be applied to the field of the forensic biology as an alternative to the traditional Sanger-type sequencing (STS). However, experimental workflows, commercial solutions, and output data analysis must be strictly validated before being implemented into the forensic laboratory. In this study, we performed an internal validation for an NGS-based typing of the entire mitochondrial genome using the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific) on the Ion S5 sequencer (Thermo Fisher Scientific). Concordance, repeatability, reproducibility, sensitivity, and heteroplasmy detection analyses were assessed using the 2800 M and 9947A standard control DNA as well as typical casework specimens, and results were compared with conventional Sanger sequencing and another NGS sequencer in a different laboratory. We discuss the strengths and limitations of this approach, highlighting some issues regarding noise thresholds and heteroplasmy detection, and suggesting solutions to mitigate these effects and improve overall data interpretation. Results confirmed that the Precision ID Whole mtDNA Genome Panel is highly reproducible and sensitive, yielding useful full mitochondrial DNA sequences also from challenging DNA specimens, thus providing further support for its use in forensic practice.
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