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Purucker, L.

Publications and source records attributed to Purucker, L..

2 recordsLinked to original sources

Enhancing Intra-Continental Biogeographical Ancestry Prediction Through a Machine Learning Marker Selection Method

While classifiers such as TabPFN (Hollmann et al., 2025) and SNIPPER (Phillips et al., 2007a) achieve strong intercontinental performance (Heinzel et al., 2025), their accuracy in classifying individuals within Europe remains low. One major factor contributing to this limitation is the set of genetic markers used for classification. Marker panels such as the VISAGE Enhanced Tool (Xavier et al., 2022) are commonly employed in forensic genetics because they contain ancestry-informative markers (AIMs) that distinguish very well between major continental populations. However, these panels are often not optimized for fine-scale differentiation within continents, where genetic variation is more subtle and population structure is rather continuous. We apply machine learning to select informative markers for intra-European classification, using data from Consortium et al. (2015). Compared with the VISAGE Enhanced Tool and allele frequency-based approaches (Phillips et al., 2007b; Kosoy et al., 2009; Nassir et al., 2009; Kidd et al., 2014; Phillips et al., 2014a), our marker sets achieve substantially higher accuracy within Europe: For four European populations, accuracy improves from 68.2% (VISAGE, 104 markers) to 73.7% (100 new markers) and 82.3% (200 new markers). For five populations, accuracy rises from 56.1% (VISAGE) to 64.5% (100 new markers). Our results show that tailored marker selection markedly improves intra-continental classification. While optimized here for Europe, the method can be applied to any region with sufficient training data.

genetics↗

Advancing Biogeographical Ancestry Predictions Through Machine Learning

Tools like Snipper or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against TabPFN, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy--the proportion of correct classifications--and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with TabPFN consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, TabPFN improves SNIPPER from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.

genetics↗