Abstract
As the field of forensic DNA analysis has started to transition from genetics to genomics, new methods to aid in crime scene investigations have arisen. The development of informative single nucleotide polymorphism (SNP) markers has led the forensic community to question if DNA can be a reliable “eye-witness” and whether the data it provides can shed light on unknown perpetrators. We have developed an assay called the Ion AmpliSeq™ PhenoTrivium Panel, which combines three groups of markers: 41 phenotype- and 163 ancestry-informative autosomal SNPs together with 120 lineage-specific Y-SNPs. Here, we report the results of testing the assay’s sensitivity and the predictions obtained for known reference samples. Moreover, we present the outcome of a blind study performed on real casework samples in order to understand the value and reliability of the information that would be provided to police investigators. Furthermore, we evaluated the accuracy of admixture prediction in Converge™ Software. The results show the panel to be a robust and sensitive assay which can be used to analyze casework samples. We conclude that the combination of the obtained predictions of phenotype, biogeographical ancestry, and male lineage can serve as a potential lead in challenging police investigations such as cold cases or cases with no suspect.
Highlights
IntroductionSequencing (MPS) is becoming a more commonly used tool for DNA analysis
Forensic genetics currently stands in front of a new era of DNA analysis as Massively ParallelSequencing (MPS) is becoming a more commonly used tool for DNA analysis
ID Ancestry Panel (Thermo Fisher Scientific, Waltham, MA, USA) [5] and 41 phenotype single nucleotide polymorphism (SNP) correspond with the HIrisPlex-S Panel [11]
Summary
Sequencing (MPS) is becoming a more commonly used tool for DNA analysis. To implement the new capabilities in DNA testing, legal changes are obligatory for SNP analysis by MPS to be applied in new cases. Forensic DNA phenotyping (FDP) concerns coding DNA and goes beyond the methods used so far, which are based on testing non-coding regions. The latter provides investigators with the forensic golden standard of an STR profile used to associate a suspect with a crime scene. In Germany, a legal change was introduced at the end of 2019 which allows for a forensic
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