The BioGeographical Ancestry (BGA) of an individual can be inferred from their Deoxyribonucleic Acid (DNA), particularly by using Single-Nucleotide Polymorphism (SNP) markers. This short paper aimed to predict the continental BGA by adopting a supervised Machine Learning (ML) method and relying on an innovative SNP panel. Starting from individuals with known BGA, a model pipeline was applied within a nested cross-validation strategy to perform model selection and assessment. The results showed a good discrimination capacity of the novel panel and plausible misclassification patterns that may be connected more to the complexity of the phenomenon rather than to inference problems, which require a discussion of the BGA uncertainty. These findings laid the groundwork for further research with the ultimate purpose of inferring BGA at a finer level.

Biogeographical Ancestry Prediction via an Innovative Panel: Difficult Task or Complex Phenomenon? / Grazzini, Cosimo; Spera, Giorgia; Castellana, Daniele; Morelli, Stefania; Pilli, Elena; Baccini, Michela; Cereda, Giulia. - ELETTRONICO. - (2025), pp. 363-368. (Intervento presentato al convegno Scientific Meeting of the Italian Statistical Society) [10.1007/978-3-031-95995-0_60].

Biogeographical Ancestry Prediction via an Innovative Panel: Difficult Task or Complex Phenomenon?

Grazzini, Cosimo
;
Spera, Giorgia;Castellana, Daniele;Morelli, Stefania;Pilli, Elena;Baccini, Michela;Cereda, Giulia
2025

Abstract

The BioGeographical Ancestry (BGA) of an individual can be inferred from their Deoxyribonucleic Acid (DNA), particularly by using Single-Nucleotide Polymorphism (SNP) markers. This short paper aimed to predict the continental BGA by adopting a supervised Machine Learning (ML) method and relying on an innovative SNP panel. Starting from individuals with known BGA, a model pipeline was applied within a nested cross-validation strategy to perform model selection and assessment. The results showed a good discrimination capacity of the novel panel and plausible misclassification patterns that may be connected more to the complexity of the phenomenon rather than to inference problems, which require a discussion of the BGA uncertainty. These findings laid the groundwork for further research with the ultimate purpose of inferring BGA at a finer level.
2025
Statistics for Innovation III
Scientific Meeting of the Italian Statistical Society
Grazzini, Cosimo; Spera, Giorgia; Castellana, Daniele; Morelli, Stefania; Pilli, Elena; Baccini, Michela; Cereda, Giulia
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1434872
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