2. Material and methods
2.1 Sensitivity study and reagent volume study
2.2 Casework samples
2.3 Hair and reference samples
2.4 Library building, sequencing, and data analysis
3. Results and discussion
3.1 Sensitivity study and half reagent volume study
- •The average read depth per sample was > 1200x in all samples, although some regions had read depth < 50x.
- •Using half volume of reagents did not compromise the quality of the results and can be a cost-effective alternative for reference samples.
- •The Universal Analysis Software (UAS) reports variants above 6%. When the interpretation threshold was set to 10%, complete concordance was observed between the duplicates and previous results (excluding PolyC regions 303–315 and 16,180–16,193, and the repetitive region 514–524).
- •Heteroplasmy reported with both chemistries was consistent, although frequencies varied up to 10% compared to previous results.
Conflict of interest
- Next generation sequencing and its applications in forensic genetics.Forensic Sci. Int. Genet. 2015; 18: 78-89
- Evaluation of next generation mtGenome sequencing using the ion torrent personal genome machine (PGM).Forensic Sci. Int. Genet. 2013; 7: 543-549
- High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq.Forensic Sci. Int. Genet. 2014; 12: 128-135
- Fragmented nuclear DNA is the predominant genetic material in human hair shafts.Genes. 2018; 9: 640
- Sequencing of mitochondrial genomes using the precision ID mtDNA whole genome panel.Electrophoresis. 2018; 39: 2766-2775
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