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Quo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference.

2026-07-02Artigo científico Acesso aberto
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datacite.subject.fosCiências Médicas::Outras Ciências Médicas
dc.contributor.authorDiepenbroek, Marta
dc.contributor.authorAmorim, António
dc.contributor.authorAnslinger, Katja
dc.contributor.authorArora, Natasha
dc.contributor.authorAmory, Christina
dc.contributor.authorBallard, David
dc.contributor.authorBekaert, Bram
dc.contributor.authorBouakaze, Caroline
dc.contributor.authorAfonso Costa, Heloísa
dc.contributor.authorDecorte, Ronny
dc.contributor.authorEwers, Lena
dc.contributor.authorFagerholm, Siri Aili
dc.contributor.authorGarcia, Oscar
dc.contributor.authorvan der Gaag, Kris
dc.contributor.authorGysi, Mario
dc.contributor.authorHaas, Cordula
dc.contributor.authorHollard, Clemence
dc.contributor.authorKling, Daniel
dc.contributor.authorPalencia-Madrid, Leire
dc.contributor.authorPereira, Vania
dc.contributor.authorde la Puente, María
dc.contributor.authorRuiz-Ramírez, Jorge
dc.contributor.authorSadam, Maarja
dc.contributor.authorSidstedt, Maja
dc.contributor.authorMogensen, Helle Smidt
dc.contributor.authorStaadig, Adam
dc.contributor.authorStoljarova-Bibb, Monika
dc.contributor.authorCourt, Denise Syndercombe
dc.contributor.authorTillmar, Andreas
dc.contributor.authorTvedebrink, Torben
dc.contributor.authorXavier, Catarina
dc.contributor.authorWeiler, Natalie
dc.contributor.authorParson, Walther
dc.contributor.authorPhillips, Christopher
dc.date.accessioned2026-07-13T11:22:13Z
dc.date.available2026-07-13T11:22:13Z
dc.date.issued2026-07-02
dc.description.abstractThere is a broad consensus that forensic tests for the prediction of externally visible characteristics (EVC) and analysis of biogeographic ancestry (BGA) of an individual are technically reliable. However, interpretation of the results and population-specific genotype distribution patterns remains challenging. EVC and BGA analyses provide valuable information for population genetics studies and as investigative leads for criminal cases, as well as for historical and contemporary identification tests. However, inaccurate or incorrect predictions, for example, from subjective bias in the interpretations made, have the potential to misdirect police investigations. The legal situation regarding EVC and BGA testing varies by country: ranging from countries where it is explicitly prohibited, to those without specific regulations on biogeographic ancestry prediction, and others that have already enacted laws governing its use. The reluctance to utilize these analyses is not only due to legal restrictions and data protection concerns, but also to initial limited sets of sufficiently comprehensive forensic DNA assays. Forensic BGA marker panels typically contain up to ∼300 SNPs. This relatively small number of genetic markers, along with limited reference population data, complicates the interpretation of results from donors of unknown origin. This paper presents the results of a collaborative EDNAP study, which, for the first time, evaluated the approach to reporting EVC and BGA data between international laboratories. For the study, DNA from nine individuals with self-reported ancestry was collected and analysed using various forensic panels differing in the number and composition of ancestry-informative markers genotyped, comprising: the Precision ID mtDNA Whole Genome Panel, the VISAGE Basic Tool and the VISAGE Enhanced Tool for Appearance and Ancestry Prediction, and the Ion AmpliSeq™ PhenoTrivium Panel. To ensure full data protection, all SNP genotypes and uniparental marker haplotypes obtained were not shared with third parties. Instead, the genetic data were analysed using a range of commonly used population analysis software packages. These analysis outcomes were then distributed to twelve European forensic laboratories (both academic and law enforcement institutions), who were asked to prepare reports based on their interpretation of the phenotypes and ancestry they inferred from the analysis data. A questionnaire sent alongside the genetic information, aimed to evaluate which difficulties were encountered by the participants in processing the BGA analysis data they were given.eng
dc.identifier.citationDiepenbroek, M., Amorim, A., Anslinger, K., Arora, N., Amory, C., Ballard, D., Bekaert, B., Bouakaze, C., Costa, H., Decorte, R., Ewers, L., Fagerholm, S. A., Garcia, O., van der Gaag, K., Gysi, M., Haas, C., Hollard, C., Kling, D., Palencia-Madrid, L., Pereira, V., … Phillips, C. (2026). Quo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference. Forensic science international. Genetics, 86, 103576. Advance online publication. https://doi.org/10.1016/j.fsigen.2026.103576
dc.identifier.doi10.1016/j.fsigen.2026.103576
dc.identifier.issn1878-0326
dc.identifier.urihttp://hdl.handle.net/10400.26/63783
dc.language.isoen
dc.peerreviewedyes
dc.publisherElsevier
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S1872497326001572?via%3Dihub
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAdmixture analysis
dc.subjectAncestry-informative markers (AIMs)
dc.subjectBiogeographical ancestry (BGA)
dc.subjectExternally visible characteristics (EVC)
dc.subjectPopulation genetics
dc.titleQuo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference.eng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage103576
oaire.citation.titleForensic science international: Genetics
oaire.citation.volume86
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameAmorim
person.familyNameAfonso Costa
person.givenNameAntónio
person.givenNameHeloísa
person.identifier.ciencia-id331B-529A-08AE
person.identifier.orcid0000-0002-7506-4426
person.identifier.orcid0000-0002-7823-7687
person.identifier.ridA-4414-2013
person.identifier.ridJ-5725-2015
person.identifier.scopus-author-id35253426400
person.identifier.scopus-author-id24729171700
relation.isAuthorOfPublication71c1447c-fe17-438b-bba1-256e3abdb87a
relation.isAuthorOfPublicatione75e9d2d-2282-46d8-a2cb-37b7edbb1156
relation.isAuthorOfPublication.latestForDiscovery71c1447c-fe17-438b-bba1-256e3abdb87a

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