Characterisation of identity-informative genetic markers in the Australian population with European ancestry.

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

Characterisation of identity-informative genetic markers in the Australian population with European ancestry.

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

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Publisher:: Elsevier BV
Publication Type:: Journal Article
Citation:: Forensic Sci Int Genet, 2024, 74, pp. 103169
Issue Date:: 2024-10-28

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Field	Value	Language
dc.contributor.author	Watson, JL
dc.contributor.author	Cho, K
dc.contributor.author	Grisedale, K
dc.contributor.author	Ward, J
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367
dc.date.accessioned	2024-11-14T05:28:22Z
dc.date.available	2024-10-27
dc.date.available	2024-11-14T05:28:22Z
dc.date.issued	2024-10-28
dc.identifier.citation	Forensic Sci Int Genet, 2024, 74, pp. 103169
dc.identifier.issn	1872-4973
dc.identifier.issn	1878-0326
dc.identifier.uri	http://hdl.handle.net/10453/181906
dc.description.abstract	Identity-informative single nucleotide polymorphisms (iiSNPs) are valuable genetic markers for human identification and kinship testing in forensic casework, especially when the quality and quantity of DNA evidence is not suitable for routine short tandem repeat (STR) profiling. This study analysed 105 buccal samples representing the Australian population with European ancestry in order to assign allele frequencies and conduct population genetic analyses for 94 iiSNPs and 20 STRs. The markers were assessed by calculating relevant forensic statistics and testing for deviations from Hardy-Weinberg and linkage equilibrium. No linkage of statistical significance was observed between any of the pair-wise combinations of the combined 114 identity-informative markers and only one STR exhibited deviation from Hardy-Weinberg equilibrium (D8S1179). The probability of matching genotypes being observed within this population was of the order of 10-23 for STRs, 10-38 for iiSNPs and 10-60 for the combined identity-informative marker panel, improving the ability to discriminate between individuals when calculating likelihood ratios in direct or indirect matching scenarios. Further, the addition of iiSNPs will facilitate identifications when suboptimal STR profiles are recovered from compromised or challenging samples and aid comparisons to genetic relatives for familial or kinship testing.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Elsevier BV
dc.relation.ispartof	Forensic Sci Int Genet
dc.relation.isbasedon	10.1016/j.fsigen.2024.103169
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	01 Mathematical Sciences, 06 Biological Sciences, 18 Law and Legal Studies
dc.subject.classification	Legal & Forensic Medicine
dc.subject.classification	31 Biological sciences
dc.subject.classification	48 Law and legal studies
dc.subject.classification	49 Mathematical sciences
dc.title	Characterisation of identity-informative genetic markers in the Australian population with European ancestry.
dc.type	Journal Article
utslib.citation.volume	74
utslib.location.activity	Netherlands
utslib.for	01 Mathematical Sciences
utslib.for	06 Biological Sciences
utslib.for	18 Law and Legal Studies
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 4.0 International License (CC BY 4.0). To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/
dc.date.updated	2024-11-14T05:28:21Z
pubs.publication-status	Published online
pubs.volume	74

Abstract:

Identity-informative single nucleotide polymorphisms (iiSNPs) are valuable genetic markers for human identification and kinship testing in forensic casework, especially when the quality and quantity of DNA evidence is not suitable for routine short tandem repeat (STR) profiling. This study analysed 105 buccal samples representing the Australian population with European ancestry in order to assign allele frequencies and conduct population genetic analyses for 94 iiSNPs and 20 STRs. The markers were assessed by calculating relevant forensic statistics and testing for deviations from Hardy-Weinberg and linkage equilibrium. No linkage of statistical significance was observed between any of the pair-wise combinations of the combined 114 identity-informative markers and only one STR exhibited deviation from Hardy-Weinberg equilibrium (D8S1179). The probability of matching genotypes being observed within this population was of the order of 10-23 for STRs, 10-38 for iiSNPs and 10-60 for the combined identity-informative marker panel, improving the ability to discriminate between individuals when calculating likelihood ratios in direct or indirect matching scenarios. Further, the addition of iiSNPs will facilitate identifications when suboptimal STR profiles are recovered from compromised or challenging samples and aid comparisons to genetic relatives for familial or kinship testing.

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http://hdl.handle.net/10453/181906