Explainable AI-driven marker selection and development of EastFocus AISNPplex 61 assay for fine-scale biogeographical ancestry inference.

An AI-driven marker selection process identified 58 AIM-SNPs enabling precise biogeographical ancestry inference within East Asian populations, achieving high accuracy with AUCs up to 0.999.

• Why it matters: Understanding fine-scale population structures is crucial for forensic investigations and personalized medicine, yet existing methods lack interpretability and resolution for East Asian diversity.
• What they did: Researchers combined the SHAP method with recursive feature elimination to select informative markers and developed the EastFocus AISNPplex 61 assay, validated for sensitivity and mixed sample analysis.
• The result: The panel reliably distinguishes five continental populations and intra-East Asian groups, facilitating spatial visualization of genetic affinities and admixture, advancing forensic biogeographical analysis.