Forensically relevant SNaPshot<sup>®</sup> assays for human DNA SNP analysis: a review

Mehta, B; Daniel, R; Phillips, C; McNevin, D

Forensically relevant SNaPshot<sup>®</sup> assays for human DNA SNP analysis: a review

Mehta, B Daniel, R Phillips, C McNevin, D

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Publication Type:: Journal Article
Citation:: International Journal of Legal Medicine, 2017, 131 (1), pp. 21 - 37
Issue Date:: 2017-01-01

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Field	Value	Language
dc.contributor.author	Mehta, B	en_US
dc.contributor.author	Daniel, R	en_US
dc.contributor.author	Phillips, C	en_US
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367	en_US
dc.date.available	2016-10-31	en_US
dc.date.issued	2017-01-01	en_US
dc.identifier.citation	International Journal of Legal Medicine, 2017, 131 (1), pp. 21 - 37	en_US
dc.identifier.issn	0937-9827	en_US
dc.identifier.uri	http://hdl.handle.net/10453/123721
dc.description.abstract	© 2016, Springer-Verlag Berlin Heidelberg. Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot® technique has been utilised to analyse identity and FDP-associated SNPs in forensic DNA analysis. SNaPshot is a single-base extension (SBE) assay with capillary electrophoresis as its detection system. This multiplexing technique offers the advantage of easy integration into operational forensic laboratories without the requirement for any additional equipment. Further, the SNP panels from SNaPshot® assays can be incorporated into customised panels for massively parallel sequencing (MPS). Many SNaPshot® assays are available for identity, BGA and EVC profiling with examples including the well-known SNPforID 52-plex identity assay, the SNPforID 34-plex BGA assay and the HIrisPlex EVC assay. This review lists the major forensically relevant SNaPshot® assays for human DNA SNP analysis and can be used as a guide for selecting the appropriate assay for specific identity and FDP applications.	en_US
dc.relation.ispartof	International Journal of Legal Medicine	en_US
dc.relation.isbasedon	10.1007/s00414-016-1490-5	en_US
dc.subject.classification	Legal & Forensic Medicine	en_US
dc.subject.mesh	Chromosomes, Human, Y	en_US
dc.subject.mesh	Animals	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Insects	en_US
dc.subject.mesh	Bacteria	en_US
dc.subject.mesh	DNA	en_US
dc.subject.mesh	Skin Pigmentation	en_US
dc.subject.mesh	Blood Grouping and Crossmatching	en_US
dc.subject.mesh	Electrophoresis, Capillary	en_US
dc.subject.mesh	Genetics, Population	en_US
dc.subject.mesh	Conservation of Natural Resources	en_US
dc.subject.mesh	Eye Color	en_US
dc.subject.mesh	Genotype	en_US
dc.subject.mesh	Polymorphism, Single Nucleotide	en_US
dc.subject.mesh	Continental Population Groups	en_US
dc.subject.mesh	Forensic Genetics	en_US
dc.subject.mesh	Endangered Species	en_US
dc.subject.mesh	High-Throughput Nucleotide Sequencing	en_US
dc.subject.mesh	Genotyping Techniques	en_US
dc.subject.mesh	Multiplex Polymerase Chain Reaction	en_US
dc.subject.mesh	Insecta	en_US
dc.title	Forensically relevant SNaPshot<sup>®</sup> assays for human DNA SNP analysis: a review	en_US
dc.type	Journal Article
utslib.citation.volume	1	en_US
utslib.citation.volume	131	en_US
utslib.for	0399 Other Chemical Sciences	en_US
utslib.for	0699 Other Biological Sciences	en_US
utslib.for	1103 Clinical Sciences	en_US
pubs.embargo.period	Not known	en_US
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/Strength - CFS - Centre for Forensic Science
utslib.copyright.status	closed_access
pubs.issue	1	en_US
pubs.publication-status	Published	en_US
pubs.volume	131	en_US

Abstract:

© 2016, Springer-Verlag Berlin Heidelberg. Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot® technique has been utilised to analyse identity and FDP-associated SNPs in forensic DNA analysis. SNaPshot is a single-base extension (SBE) assay with capillary electrophoresis as its detection system. This multiplexing technique offers the advantage of easy integration into operational forensic laboratories without the requirement for any additional equipment. Further, the SNP panels from SNaPshot® assays can be incorporated into customised panels for massively parallel sequencing (MPS). Many SNaPshot® assays are available for identity, BGA and EVC profiling with examples including the well-known SNPforID 52-plex identity assay, the SNPforID 34-plex BGA assay and the HIrisPlex EVC assay. This review lists the major forensically relevant SNaPshot® assays for human DNA SNP analysis and can be used as a guide for selecting the appropriate assay for specific identity and FDP applications.

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http://hdl.handle.net/10453/123721