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Source level interpretation of mixed biological stains using coding region SNPs

Dørum, Guro; Bleka, Øyvind; Gill, Peter; Haas, Cordula (2022). Source level interpretation of mixed biological stains using coding region SNPs. Forensic Science International. Genetics, 59:102685.

Abstract

The association of body fluids/cell types and donors in mixed biological traces is an important, but challenging task required to evaluate the value of evidence given forensic propositions concerning the source of the DNA. The linking of a DNA profile with evidence from presumptive tests or RNA analysis is not straightforward. Coding region SNPs (cSNPs) are a novel type of evidential markers that are both cell type specific and individual specific. They thereby provide a direct link between a donor and a body fluid in mixed biological stains. In this proof-of-concept paper we consider the evaluation of cSNP profiles given source level propositions and explore the use of the open-source software EuroForMix to compute likelihood ratios. The discrimination power of the cSNPs for various body fluids is investigated with simulations. We provide case examples where the type of biological material is questioned and where cSNP profiles can be used to assign a donor to a body fluid, and discuss how the results can be reported in court.

Keywords: Body fluid identification; Body fluid mixtures; Coding region SNP (cSNP); Forensic Science; Likelihood ratio; Source level propositions; mRNA

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Legal Medicine
Dewey Decimal Classification:340 Law
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pathology and Forensic Medicine
Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Pathology and Forensic Medicine Forensic Science, Body fluid identification, mRNA, Coding region SNP (SNP), Body fluid mixtures, Source level propositions, Likelihood ratio
Language:English
Date:1 July 2022
Deposited On:06 Jan 2023 13:57
Last Modified:25 Feb 2025 02:39
Publisher:Elsevier
ISSN:1872-4973
OA Status:Hybrid
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/j.fsigen.2022.102685
PubMed ID:35381476
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  • Language: English
  • Licence: Creative Commons: Attribution 4.0 International (CC BY 4.0)

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