The use of massively parallel sequencing in Forensic DNA typing - what will the future hold?

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Assistant Professor, Forensic Science Program, University of Toronto
    Biography
      Dr. Nicole Novroski is an Assistant Professor and Forensic Geneticist within the Forensic Science Program at the University of Toronto. She is native to Canada, where she completed her Bachelor's Degree in Forensic Science and Biology at the University of Toronto (where she is now a tenure-stream faculty member). Dr. Novroski's graduate work includes a Masters degree from the University at Albany, SUNY in Forensic Molecular Biology, where she interned at the Minnesota Bureau of Criminal Apprehension in St. Paul. Following graduation in 2011, she focused on casework at the NYC Office of Chief Medical Examiner Department of Forensic Biology as a Criminalist and left in 2013 to pursue a doctoral degree at the University of North Texas Health Science Center. She earned her PhD in 2018 under the guidance of Dr. Bruce Budowle, where she focused on a novel panel of highly informative STR markers for enhanced DNA mixture deconvolution. She currently specializes in using massively parallel sequencing (MPS; also known as next-generation sequencing) coupled with novel approaches and methodologies for forensic human identity testing. Her continued focus is in the exploration of previously uncharacterized genetic markers for improved DNA mixture de-convolution. Dr. Novroski's research also includes the characterization of sequence variation for human identity markers, and in the generation of sequence-based allele frequencies (and other population studies) for forensic applications worldwide. For more information about Dr. Novroski's growing lab, please visit www.nicolenovroski.com.

    Abstract

    The current standard methodology in forensic DNA typing relies on amplification of short tandem repeat (STR) markers by the polymerase chain reaction (PCR) and allele sizes (i.e., length-based) determined for each locus using capillary electrophoresis (CE). Massively parallel sequencing (MPS), also known as next generation sequencing (NGS), allows high throughput sequencing of STR amplicons, which can identify nominal length-based (LB) genetic variation but equally as well inter-allelic sequence (sequence-based; SB) variation. The increased effective number of alleles per marker for some STR loci improves discrimination power, which may be invaluable in some cases of kinship analysis and for mixture de- convolution. Furthermore, allelic variation captured using MPS may be useful towards understanding of STR mutations and their rates and may contribute to evolutionary studies using STR markers. One issue with current massively parallel sequencing (MPS) is the need to capture flanking region sequence variation to exploit the full power of forensically relevant STR loci. The application of such data will increase our knowledge and understanding of each locus, gain additional genetic information about population specific genetic parameters, increase the power of discrimination of a locus, and potentially aid in mixture de-convolution efforts. The underlying genetic variation needs to be described through studies on various population groups.

    Learning Objectives:

    1. Understand the advances in sequence-based technologies in Forensic DNA typing

    2. Understand the major commonalities and differences between current and futuristic DNA typing methods

    3. Acknowledge the complexities of the human genome for forensic human identity applications


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