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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Ecol. Evol. | doi: 10.3389/fevo.2019.00450

Hybridization enrichment to improve forensic mitochondrial DNA analysis of highly degraded human remains

Jennifer M. Young1, Denice Higgins1 and  Jeremy Austin1*
  • 1University of Adelaide, Australia

Forensic mitochondrial DNA analysis of degraded human remains using PCR-based Sanger sequencing of the control region can be challenging when endogenous DNA is highly fragmented, damaged and at very low concentration. Hybridization enrichment coupled with massively parallel sequencing (MPS) offers an effective alternative for recovering DNA fragments as small as 30 base pairs (bp) from poorly preserved samples. Here, we apply this methodology on a range of degraded human skeletal remains that have previously been analysed using PCR-based Sanger sequencing with variable success. Our results reaffirm the benefit of targeted enrichment for analysis of degraded remains and highlight the importance of using optimized library preparation and enrichment techniques. We provide an indication of the sequencing depth required to obtain full mtDNA genomes given the complexity of the library and confirm that a second enrichment and/or a very high sequencing effort may be required to obtain full mtDNA genomes for some degraded samples.

Keywords: forensic, DNA, Mitochondrial Genome, Hybridization enrichment, massively parallel sequencing, degraded remains

Received: 14 Aug 2019; Accepted: 07 Nov 2019.

Copyright: © 2019 Young, Higgins and Austin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Jeremy Austin, University of Adelaide, Adelaide, 5005, Australia,