Title

P148 – One Panel to Rule Them All: A Comparison of Human SNP Genotyping Platforms for Forensic DNA Analysis.

16:19
Wednesday August 19th
Station 16
Duration: 12 minutes 
04. Forensic biology
Karina Pfeiler

Over the last decade, a new focus has emerged in forensic genetics: forensic investigative genetic genealogy (FIGG), whereby tens to hundreds of thousands of autosomal single-nucleotide polymorphisms (SNPs) are used to identify close and distant biological relationships between an unknown sample and direct-to-consumer (DTC) SNP databases containing genotypes of millions of individuals.

Large SNP panels can simultaneously support multiple forensic applications, including ancestry inference, phenotype prediction, kinship analysis, and human identification. However, cross-platform compatibility, SNP marker standardisation, and the computational and bioinformatic demands associated with analysing large genomic datasets remain challenging for forensic applications. 

This study compares a number of commercial and in-house SNP genotyping platforms based on key factors relevant to forensic implementation, including overall SNP content and overlap, genomic coverage, cost, intended applications, compatibility with existing genetic genealogy and reference databases and associated computational and bioinformatic requirements. 

By providing a comparative overview of current forensic SNP panels, this study highlights key considerations for panel selection and implementation in forensic casework. These findings contribute to ongoing efforts to optimise SNP-based approaches for forensic investigations, particularly in cases involving degraded DNA or unidentified human skeletal remains.

Authors

  • Karina Pfeiler (Adelaide University, Australia)
  • Corrin Paepke (Adelaide University, Australia)
  • Leonard Taufik (Adelaide University, Australia)
  • Shyamsundar Ravishankar (Adelaide University, Australia)
  • Jeremy Austin (Adelaide University, Australia)

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