Illumina next-generation sequencing (NGS) has the potential to transform mitochondrial DNA (mtDNA) analysis. mtDNA analysis enables coroner and medical examiner laboratories to extract genetic data from small forensic samples found in less than ideal condition.
There are thousands of copies of mtDNA in every cell of the human body, but the copies found in different tissues may not be exactly the same. Referred to as heteroplasmy, these mitochondrial DNA mutations can make it difficult to confirm sample associations needed for identification in forensic investigations.
Illumina NGS technology, sequencing by synthesis (SBS), offers fast results and deep coverage of areas of interest. The MiSeq FGx System is capable of indexing 96 samples in a single sequencing run. Its simple workflow can quickly deliver forensic mtDNA analysis results, potentially speeding up investigations.
Additionally, the deep reads of Illumina NGS technology enable the accurate detection of mitochondrial DNA heteroplasmy with minor allele frequencies (MAFs) greater than 1%. This not only results in clearer heteroplasmy analysis, but also enables greater resolution of mixture samples.
Following DNA extraction, mtDNA is amplified with a D-loop PCR protocol or with a whole mitochondrial genome approach. Prepare the mtDNA sequencing library with the Nextera XT DNA Library Prep Kit. Following library preparation, sequence mtDNA libraries on the MiSeq, or in the RUO mode of the MiSeq FGx.
Click on the below to view products for each workflow step.
Prepare sequencing-ready libraries for small genomes like mitochondrial DNA in less than 90 minutes.
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