DNA intelligence using sex-chromosome, phenotype-informative and ancestry-informative markers in an Australian population

Watson, JL; Grisedale, K; Ward, J; McNevin, D

DNA intelligence using sex-chromosome, phenotype-informative and ancestry-informative markers in an Australian population

Watson, JL Grisedale, K Ward, J

McNevin, D

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Publisher:: TAYLOR & FRANCIS LTD
Publication Type:: Journal Article
Citation:: Australian Journal of Forensic Sciences, 2025, ahead-of-print, (ahead-of-print)
Issue Date:: 2025-01-01

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Field	Value	Language
dc.contributor.author	Watson, JL
dc.contributor.author	Grisedale, K
dc.contributor.author	Ward, J https://orcid.org/0000-0001-9359-9806
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367
dc.date.accessioned	2025-08-06T04:21:15Z
dc.date.available	2025-08-06T04:21:15Z
dc.date.issued	2025-01-01
dc.identifier.citation	Australian Journal of Forensic Sciences, 2025, ahead-of-print, (ahead-of-print)
dc.identifier.issn	0045-0618
dc.identifier.issn	1834-562X
dc.identifier.uri	http://hdl.handle.net/10453/189223
dc.description.abstract	Single nucleotide polymorphism (SNP) data can be used to infer the biological sex, externally visible characteristics (EVCs) and biogeographical ancestry (BGA) of an unknown individual. There are multiple pipelines available that can be used to generate these inferences and provide investigative leads for law enforcement to pursue. It is important for inference pipelines to be evaluated within a population representative of the intended jurisdiction prior to casework implementation. This study presents the performance of several pipelines using an Australian study population with self-declared biological sex, eye colour, hair colour and recent ancestry. The proportion of consistent results for EVC inference was higher for the HIrisPlex online tool using published interpretation guidelines for eye colour (97%) and hair colour (80%) when compared to the MiSeq FGx® Universal Analysis Software (UAS) for eye colour (74%) and hair colour (69%). For inferring BGA, a principle coordinate analysis pipeline produced the most consistent results when compared to self-declared data (86%). This was improved to 90% when inconclusive results obtained from admixed individuals were analysed with Structure. This study highlights the strengths and limitations of multiple inference pipelines to assist in the development of interpretation and reporting guidelines for Australian applications.
dc.language	English
dc.publisher	TAYLOR & FRANCIS LTD
dc.relation.ispartof	Australian Journal of Forensic Sciences
dc.relation.isbasedon	10.1080/00450618.2025.2491376
dc.rights	info:eu-repo/semantics/openAccess
dc.subject.classification	Legal & Forensic Medicine
dc.title	DNA intelligence using sex-chromosome, phenotype-informative and ancestry-informative markers in an Australian population
dc.type	Journal Article
utslib.citation.volume	ahead-of-print
pubs.organisational-group	University of Technology Sydney
pubs.organisational-group	University of Technology Sydney/Faculty of Science
pubs.organisational-group	University of Technology Sydney/Faculty of Science/School of Mathematical and Physical Sciences
pubs.organisational-group	University of Technology Sydney/UTS Groups
pubs.organisational-group	University of Technology Sydney/UTS Groups/Centre for Forensic Science (CFS)
utslib.copyright.status	open_access	*
dc.rights.license	This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0). To view a copy of this license, visit https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.date.updated	2025-08-06T04:21:12Z
pubs.issue	ahead-of-print
pubs.publication-status	Published
pubs.volume	ahead-of-print
utslib.citation.issue	ahead-of-print

Abstract:

Single nucleotide polymorphism (SNP) data can be used to infer the biological sex, externally visible characteristics (EVCs) and biogeographical ancestry (BGA) of an unknown individual. There are multiple pipelines available that can be used to generate these inferences and provide investigative leads for law enforcement to pursue. It is important for inference pipelines to be evaluated within a population representative of the intended jurisdiction prior to casework implementation. This study presents the performance of several pipelines using an Australian study population with self-declared biological sex, eye colour, hair colour and recent ancestry. The proportion of consistent results for EVC inference was higher for the HIrisPlex online tool using published interpretation guidelines for eye colour (97%) and hair colour (80%) when compared to the MiSeq FGx® Universal Analysis Software (UAS) for eye colour (74%) and hair colour (69%). For inferring BGA, a principle coordinate analysis pipeline produced the most consistent results when compared to self-declared data (86%). This was improved to 90% when inconclusive results obtained from admixed individuals were analysed with Structure. This study highlights the strengths and limitations of multiple inference pipelines to assist in the development of interpretation and reporting guidelines for Australian applications.

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http://hdl.handle.net/10453/189223