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DNA-based prediction of eye color in Latin American population applying Machine Learning models
Cristian A Martínez1, Diana M Hohl2, María de Los A Gutiérrez3
1Lab. LITRP, Depto. DCI, Facultad de Ciencias de la Ingeniería, Universidad Católica del Maule, Av. San Miguel 3605, Talca, 3480112, Chile.
Computers in Biology and Medicine
|June 11, 2025
Summary
Machine learning models can now predict human eye color from genetic data. This advancement in artificial intelligence (AI) holds promise for genetics, health, biometrics, and forensic applications.
Area of Science:
- Genetics and Bioinformatics
- Computational Biology
- Machine Learning Applications
Background:
- Decreasing costs of DNA sequencing and genotyping enable large-scale genetic databases.
- These databases facilitate analysis of genotype-phenotype relationships, including visible traits.
- Understanding genetic determinants of traits like eye color is an active research area.
Purpose of the Study:
- To enhance the prediction accuracy of human eye color using genetic information.
- To evaluate the efficacy of various Machine Learning models for genotype-based trait prediction.
- To explore the application of AI in predicting observable human characteristics from DNA.
Main Methods:
- Utilized a dataset comprising genetic data from 308 volunteers in Buenos Aires, Argentina.
- Applied and compared multiple Machine Learning algorithms for genotype-to-phenotype prediction.
- Focused on predicting the specific trait of eye color.
Main Results:
- Achieved competitive prediction accuracy for eye color based on genetic markers.
- Demonstrated the practical utility of Machine Learning models in this predictive task.
- The models showed significant potential for real-world applications.
Conclusions:
- Artificial intelligence (AI) offers a powerful tool for analyzing human genetic data.
- Accurate prediction of visible traits like eye color from genotype is feasible.
- This research supports AI's role in advancing fields such as personalized medicine, biometrics, and forensics.

