Ancestry and phenotype predictions from touch DNA using massively parallel sequencing

Jennifer M. Young, D. Power, P. Kanokwongnuwut, A. Linacre

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Direct PCR can be used to successfully generate full STR profiles from DNA present on the surface of objects. STR profiles are only of use in cases where a potential donor profile is available for comparison, and DNA is of sufficient DNA quality and quantity to generate a reliable profile. Often, no donor information is available and only trace DNA is present on items. As a result, alternative techniques are required to generate genetic data that can provide investigative leads. Massively parallel sequencing (MPS) offers the ability to detect trace levels of DNA and improve DNA analysis success from touched items. Here, we present the first application of direct PCR coupled with MPS to generate forensic intelligence SNP data from latent DNA. The panels assessed are (1) the HIrisplex System that targets 24 SNPs to simultaneously predict hair and eye, and (2) the Precision ID Ancestry Panel that targets 165 autosomal SNPs indicative of biogeographic ancestry. For each panel, we analysed 60 touched samples across five individuals and four substrates (glass slide, fuse, zip-lock bag and wire) using Ion AmpliSeq Library Preparation Kit on the automated Ion Chef System and Ion Torrent PGM. We examine the SNP recovery, concordance with reference samples and the genotype reproducibility from different substrates and donors. The results demonstrate the application of this approach for obtaining informative genetic from trace amounts of DNA.

Original languageEnglish
Pages (from-to)81-89
Number of pages9
JournalInternational Journal of Legal Medicine
Issue number1
Early online date19 Aug 2020
Publication statusPublished - Jan 2021


  • Ancestry markers
  • External visible characteristics
  • Forensic science
  • Massively parallel DNA sequencing
  • STR DNA profiling
  • Trace DNA


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