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mRNA profiling and donor association of mock casework samples

2025-09Artigo científico Acesso aberto
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dc.contributor.authorHänggi, Nadescha Viviane
dc.contributor.authorAmorim, António
dc.contributor.authorCosta, Heloísa Afonso
dc.contributor.authorAndersen, Jeppe Dyrberg
dc.contributor.authorKampmann, Marie Louise
dc.contributor.authorCourts, Cornelius
dc.contributor.authorNeis, Maximilian
dc.contributor.authorSyndercombe-Court, Denise
dc.contributor.authorGiangasparo, Federica
dc.contributor.authorFonneløp, Ane Elida
dc.contributor.authorJohannessen, Helen
dc.contributor.authorHadrys, Thorsten
dc.contributor.authorFürst, Angelika
dc.contributor.authorParson, Walther
dc.contributor.authorNiederstätter, Harald
dc.contributor.authorSidstedt, Maja
dc.contributor.authorAili Fagerholm, Siri
dc.contributor.authorSijen, Titia
dc.contributor.authorvan den Berge, Margreet
dc.contributor.authorHanson, Erin
dc.contributor.authorBallantyne, Jack
dc.contributor.authorHaas, Cordula
dc.contributor.institutionFaculdade de Ciências e Tecnologia (FCT)
dc.contributor.pblElsevier Ireland Ltd
dc.date.accessioned2026-02-02T13:03:01Z
dc.date.available2026-02-02T13:03:01Z
dc.date.issued2025-09
dc.descriptionPublisher Copyright: © 2025 The Authors
dc.description.abstractSimultaneous identification and association of body fluids to donors can serve as a powerful tool in the criminal investigation of mixed traces. Massively parallel sequencing of mRNA targets not only identifies the origin of the body fluids but may also provide additional contextual information about the body fluid donors of a (binary) mixture using coding region SNPs (cSNPs). Within the European DNA Profiling Group (EDNAP), two consecutive collaborative exercises (3rd and 4th EDNAP exercise) were organized, with the objective to evaluate the performance of two previously published high-resolution mRNA sequencing assays. In the 3rd EDNAP exercise, the BFID-cSNP-BSS assay (cSNPs for blood, saliva, and semen) was evaluated, while in the 4th EDNAP exercise, the BFID-cSNP-6F assay (cSNPs for six fluids/tissues, including blood, saliva, semen, vaginal secretion, menstrual blood, and skin) was tested. Each RNA cSNP assay was accompanied by a genomic DNA assay for the genotyping of the cSNPs in the individual(s) or body fluid donor(s) of interest. A total of 11 laboratories participated in one or both collaborative exercises. In each exercise, the participating laboratories received a set of 16 standardized mock case stains for analysis and were encouraged to analyze additional, self-prepared stains and reference samples. Laboratories could participate using either the Ion Torrent S5™ or the Illumina MiSeq™ sequencing system. The results of the 16 mock case stains were very encouraging in both exercises, as body fluid components could be reliably identified for most of the stains. Since successful donor association depends on the number of body fluid markers covered in the sequencing results, we found that for stains consisting of blood, menstrual blood, vaginal secretion or a mixture thereof, the cSNPs provided substantial genetic discriminatory information for successful association of the respective body fluid to its donor. In mixtures, the difficulty in interpreting the cSNP genotypes might be attributed to the masking effect of the other body fluid(s) present. Body fluid identification and donor association of skin samples proved to be a significant challenge. In conclusion, body fluid identification and donor association using the BFID-cSNP-BSS and -6 F assays is a promising and effective method across laboratories and sequencing platforms.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent18
dc.format.extent63787
dc.identifier.doi10.1016/j.fsigen.2025.103303
dc.identifier.issn1872-4973
dc.identifier.otherPURE: 123606877
dc.identifier.otherPURE UUID: e6f9d543-8f0a-4a6f-aa49-5dc85f1498c6
dc.identifier.otherScopus: 105007434179
dc.identifier.otherWOS: 001507048100001
dc.identifier.otherPubMed: 40482306
dc.identifier.urihttp://hdl.handle.net/10362/199903
dc.identifier.urlhttps://www.scopus.com/pages/publications/105007434179
dc.identifier.urlhttps://www.webofscience.com/wos/woscc/full-record/WOS:001507048100001
dc.language.isoeng
dc.peerreviewedyes
dc.subjectBody fluid identification
dc.subjectCoding region SNPs (cSNPs)
dc.subjectForensic science
dc.subjectMassively parallel sequencing (MPS)
dc.subjectmRNA profiling
dc.subjectPathology and Forensic Medicine
dc.subjectGenetics
dc.subjectSDG 16 - Peace, Justice and Strong Institutions
dc.titlemRNA profiling and donor association of mock casework samplesen
dc.title.subtitleResults of a 3rd and 4th EDNAP collaborative exerciseen
dc.typejournal article
degois.publication.firstPage1
degois.publication.lastPage18
degois.publication.titleForensic Science International: Genetics
degois.publication.volume79
dspace.entity.typePublication
rcaap.rightsopenAccess

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