ArticleInternational journal of legal medicine2022
Estimating individual mtDNA haplotypes in mixed DNA samples by combining MinION and MiSeq.
Article in International journal of legal medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 7 citations in OpenAlex.
- The potential of mRNA markers in body fluids and personal source analysis based on the QNome nanopore sequencing.International journal of legal medicine · 2026Article
- Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.Frontiers in genetics · 2022Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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Abstract
We tried to estimate individual mtDNA haplotypes in mixed DNA samples by combining MinION and MiSeq. The BAM files produced by MiSeq were viewed using Integrative Genomics Viewer (IGV) to verify mixed bases. By sorting the reads according to base type for each mixed base, partial haplotypes were determined. Then, the BAM files produced by MinKNOW were viewed using IGV. To determine haplotypes with IGV, only mixed bases determined by MiSeq were used as target bases. By sorting the reads according to base type for each target base, each contributor's haplotype was estimated. In mixed samples from two contributors, even a haplotype with a minor contribution of 5% could be distinguished from the haplotype of the major contributor. In mixed samples of three contributors (mixture ratios of 1:1:1 and 4:2:1), each haplotype could also be distinguished. Sequences of C-stretches were determined very inaccurately in the MinION analysis. Although the analysis method was simple, each haplotype was correctly detected in all mixed samples with two or three contributors in various mixture ratios by combining MinION and MiSeq. This should be useful for identifying contributors to mixed samples.
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