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.

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

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

摘要

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.