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  • Quo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference.
    Publication . Diepenbroek, Marta; Amorim, António; Anslinger, Katja; Arora, Natasha; Amory, Christina; Ballard, David; Bekaert, Bram; Bouakaze, Caroline; Afonso Costa, Heloísa; Decorte, Ronny; Ewers, Lena; Fagerholm, Siri Aili; Garcia, Oscar; van der Gaag, Kris; Gysi, Mario; Haas, Cordula; Hollard, Clemence; Kling, Daniel; Palencia-Madrid, Leire; Pereira, Vania; de la Puente, María; Ruiz-Ramírez, Jorge; Sadam, Maarja; Sidstedt, Maja; Mogensen, Helle Smidt; Staadig, Adam; Stoljarova-Bibb, Monika; Court, Denise Syndercombe; Tillmar, Andreas; Tvedebrink, Torben; Xavier, Catarina; Weiler, Natalie; Parson, Walther; Phillips, Christopher
    There 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.
    2026-07-02Artigo científico Acesso aberto Ver mais
  • Bem-estar psicológico e regulação emocional em jovens adultos com doença crónica diagnosticada na adolescência
    Publication . Brás, Márcia Gato; Castro, Elisa Kern de; Gouveia, Patrícia
    A presença de doença crónica pode comprometer a regulação emocional e o bem-estar psicológico, particularmente em jovens adultos que podem enfrentar simultaneamente as exigências da gestão da doença e a transição para a vida adulta. O presente estudo teve como objetivo analisar a relação entre dificuldades de regulação emocional e bem-estar psicológico em jovens adultos com doenças crónicas diagnosticadas na adolescência, bem como comparar dois grupos clínicos: diabetes mellitus tipo 1 e asma. Participaram 40 jovens adultos portugueses (18-30 anos), que responderam a um questionário sociodemográfico e clínico, à Escala de Bem-Estar Psicológico de Ryff e à Difficulties in Emotion Regulation Scale – Short Form (DERS-SF). Os resultados confirmaram uma associação negativa significativa entre regulação emocional e bem-estar psicológico, transversal a todas as dimensões avaliadas. Não foram encontradas diferenças significativas entre os dois grupos clínicos. O histórico de internamento hospitalar associou-se a maiores dificuldades de regulação emocional, com efeito grande, e o impacto percebido da doença revelou-se o preditor mais forte da dificuldade de regulação emocional. O suporte percebido na gestão da doença associou-se positivamente a todas as dimensões do bem-estar. Os resultados reforçam a importância das representações subjetivas da doença e do suporte social no ajustamento psicológico, e sugerem a necessidade de intervenções que promovam a literacia emocional e o fortalecimento das redes de apoio nesta população.
    2026-07-02Dissertação de mestrado Acesso embargado Ver mais