Impact of DNA Damage on the Interpretation of mtDNA MPS Data

NIJ 2015-DN-BX-K025

The primary goal of this research is to assess the impact of DNA damage ((depurination, deamination, oxidation) ) on mtDNA sequencing results generated on the Illumina MiSeq.  Both passive and active approaches to damaging DNA are being employed, comparing the results to NGS data generated from pristine reference samples.  In addition, we are assessing the effects of damage on low-level template quantities and on mock evidence samples in an attempt to mimic what the forensic practitioner will experience.  Given what we’re learning, we are exploring whether commercially available repair systems can fix the damage.  Lastly, we are determining whether modifications to reporting practices will be needed to address the impact of damage so that low-level heteroplasmic variants can be reliably reported in forensic investigations.  Our preliminary findings have been published in Forensic Science International: Genetics (Rathbun et al. 2017).