The Identification of Missing Persons in Australia Using Emerging Forensic Genomics Techniques

Watson, Jessica L.

The Identification of Missing Persons in Australia Using Emerging Forensic Genomics Techniques

Watson, Jessica L.

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Publication Type:: Thesis
Issue Date:: 2025

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Field	Value	Language
dc.contributor.author	Watson, Jessica L.
dc.date.accessioned	2026-03-16T03:03:28Z
dc.date.available	2026-03-16T03:03:28Z
dc.date.issued	2025
dc.identifier.uri	http://hdl.handle.net/10453/194344
dc.description	University of Technology Sydney. Faculty of Science.	en_US.UTF-8
dc.description.abstract	The growing number of unidentified and missing persons around the world has left countless individuals without identities and their loved ones without answers. Australian cases can leverage emerging forensic genomic techniques to provide new investigative leads using single nucleotide polymorphisms (SNPs) where routine identification methods have been exhausted. In addition to identity-informative SNPs (iiSNPs) for individualisation, there are several classes of SNPs that can be used to generate genetic intelligence. It is possible to infer an unknown deceased individual’s biological sex with X and Y chromosome SNPs, biogeographical ancestry (BGA) with ancestry-informative SNPs, externally visible characteristics with phenotype-informative SNPs and genetic relationships to others with kinship-informative SNPs. These inferences can be used by investigators to narrow a pool of potential candidates. However, forensic laboratories have different technological and analytical capabilities that will determine whether they can conduct boutique analyses in-house or have to outsource these capabilities to an external service provider. Under the umbrella of the Australian Federal Police (AFP) National DNA Program for Unidentified and Missing Persons, this research evaluated available SNP panels that have been designed for integration into existing forensic laboratories as an end-to-end in-house forensic genomic capability. The ForenSeq Kintelligence Kit (QIAGEN) was validated for application at the AFP National DNA Program for Unidentified and Missing Persons laboratory and its investigative potential was evaluated for all 10,230 SNPs included in the assay. By testing a range of reference- and casework-type samples of varying quality, the kit and inference pipelines were determined to be robust and the inferred information was consistent with the self-declared information provided by volunteers. Within a representative group of the Australian population, this research demonstrated that iiSNPs are suitable for application in conjunction with routine short tandem repeat (STR) profiles. Furthermore, optimised pipelines have been developed to estimate eye colour, hair colour and BGA with high success rates. Extended kinship pipelines using either kinship likelihood ratios or haplotype matching are able to accurately infer genetic relationships out to the fifth degree (i.e. second cousin) with complete or partial SNP profiles. This research holds significance for law enforcement, policymakers and family members of missing persons by contributing to the Australian and global development of forensic genomics standard operating procedures and guidelines for implementation. Australian law enforcement should continue to utilise these forensic genomic techniques to aid unresolved coronial investigations, provide answers to loved ones of missing persons and restore names to unidentified human remains.	en_US.UTF-8
dc.format	Thesis (PhD)
dc.language.iso	en_US	en_US.UTF-8
dc.relation	https://opus.lib.uts.edu.au/bitstream/10453/194344/1/thesis.pdf
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	The author owns the copyright in this thesis including all reproduction and reuse rights for the work. The work may not be altered without the permission of the copyright owner. Attribution is essential when quoting or paraphrasing from this thesis.
dc.rights	© 2025 Jessica L. Watson
dc.rights	au.edu.uts.lib/cph
dc.title	The Identification of Missing Persons in Australia Using Emerging Forensic Genomics Techniques	en_US.UTF-8
dc.type	Thesis
utslib.copyright.status	open_access	*

Abstract:

The growing number of unidentified and missing persons around the world has left countless individuals without identities and their loved ones without answers. Australian cases can leverage emerging forensic genomic techniques to provide new investigative leads using single nucleotide polymorphisms (SNPs) where routine identification methods have been exhausted. In addition to identity-informative SNPs (iiSNPs) for individualisation, there are several classes of SNPs that can be used to generate genetic intelligence. It is possible to infer an unknown deceased individual’s biological sex with X and Y chromosome SNPs, biogeographical ancestry (BGA) with ancestry-informative SNPs, externally visible characteristics with phenotype-informative SNPs and genetic relationships to others with kinship-informative SNPs. These inferences can be used by investigators to narrow a pool of potential candidates. However, forensic laboratories have different technological and analytical capabilities that will determine whether they can conduct boutique analyses in-house or have to outsource these capabilities to an external service provider. Under the umbrella of the Australian Federal Police (AFP) National DNA Program for Unidentified and Missing Persons, this research evaluated available SNP panels that have been designed for integration into existing forensic laboratories as an end-to-end in-house forensic genomic capability. The ForenSeq Kintelligence Kit (QIAGEN) was validated for application at the AFP National DNA Program for Unidentified and Missing Persons laboratory and its investigative potential was evaluated for all 10,230 SNPs included in the assay. By testing a range of reference- and casework-type samples of varying quality, the kit and inference pipelines were determined to be robust and the inferred information was consistent with the self-declared information provided by volunteers. Within a representative group of the Australian population, this research demonstrated that iiSNPs are suitable for application in conjunction with routine short tandem repeat (STR) profiles. Furthermore, optimised pipelines have been developed to estimate eye colour, hair colour and BGA with high success rates. Extended kinship pipelines using either kinship likelihood ratios or haplotype matching are able to accurately infer genetic relationships out to the fifth degree (i.e. second cousin) with complete or partial SNP profiles. This research holds significance for law enforcement, policymakers and family members of missing persons by contributing to the Australian and global development of forensic genomics standard operating procedures and guidelines for implementation. Australian law enforcement should continue to utilise these forensic genomic techniques to aid unresolved coronial investigations, provide answers to loved ones of missing persons and restore names to unidentified human remains.

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