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Forensically relevant SNaPshot® assays for human DNA SNP analysis: a review

Abstract

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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Acknowledgements

The authors gratefully acknowledge the funding from the Australian Research Council (Linkage Project 110100121: ‘From genotype to phenotype: molecular photofitting for criminal investigations’).

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Correspondence to Bhavik Mehta.

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Mehta, B., Daniel, R., Phillips, C. et al. Forensically relevant SNaPshot® assays for human DNA SNP analysis: a review. Int J Legal Med 131, 21–37 (2017). https://doi.org/10.1007/s00414-016-1490-5

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  • DOI: https://doi.org/10.1007/s00414-016-1490-5

Keywords

  • Single-nucleotide polymorphism (SNP)
  • SNaPshot
  • Forensic genotyping
  • Capillary electrophoresis (CE)
  • Forensic DNA phenotyping (FDP)
  • DNA intelligence