Massively Parallel Sequencing Of mtDNA In A Casework Laboratory

Jennifer Churchill, a Research Assistant Professor at UNT Health Science Center’s Center for Human Identification (UNTCHI), has been spearheading the validation and implementation of massively parallel sequencing (MPS) for mitochondrial DNA (mtDNA) analysis into their Center for Human Identification’s Missing Persons Unit and Forensic Unit. The Missing Persons Unit and Forensic Unit at UNTCHI are part of an accredited lab that has assisted in 1000’s of cases to date.

The mtDNA genome has features that are highly beneficial for working with degraded samples such as bones and teeth or challenging samples like shed hair. Its high copy number results in increased sensitivity for these samples which at times give no result from autosomal markers within the nuclear genome.

Currently, forensic laboratories are using Sanger sequencing to analyze the Control Region of the mtDNA genome. This approach is time consuming and labor intensive.  It is also not quantitative enough to resolve mixtures. MPS technology, using the automated workflow of the Applied Biosystems Precision ID System for human identification, makes it feasible for whole genome analysis which results in higher resolution and provides a quantitative capability for mixture interpretation. The small amplicon, highly-multiplexed library preparation with the Precision ID mtDNA Whole Genome Panel makes it ideal for challenged samples.

Jennifer shares her words of wisdom on best practices to bring mtDNA analysis into your lab. It’s never too early to get started.

For Research Forensic or Paternity Use Only. Not for use in diagnostic procedures.

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