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BR-FDP-EYE: Brazilian Forensic DNA eye phenotyping.

Luiza Marques Prates Behrens1, Carlos Eduardo Ibaldo Gonçalves2, Guilherme da Silva Fernandes3

  • 1Laboratory of Structural Bioinformatics and Computational Biology, Federal University of Rio Grande do Sul, Porto Alegre, 91501-970, RS, Brazil; Graduate Program in Cellular and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, 91501-970, RS, Brazil.

Forensic Science International
|September 23, 2025
PubMed
Summary

Forensic DNA phenotyping accurately predicts eye color using 5-7 SNPs, achieving up to 85% accuracy. The BR-FDP-EYE system offers versatile classification for diverse forensic and research applications.

Keywords:
Eye colorForensic DNA phenotypingHuman pigmentationSingle nucleotide polymorphisms

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Area of Science:

  • Genetics
  • Forensic Science
  • Bioinformatics

Background:

  • Forensic DNA phenotyping (FDP) predicts externally visible characteristics from DNA.
  • Eye color prediction is crucial for human identification in forensics.
  • Previous studies focused on single nucleotide polymorphisms (SNPs) in pigment-related genes.

Purpose of the Study:

  • To investigate the efficacy of 66 SNPs in predicting eye color for forensic applications.
  • To develop and validate a DNA-based eye color prediction system for admixed populations.
  • To introduce the BR-FDP-EYE system for phenotype prediction from DNA.

Main Methods:

  • Analysis of 66 SNPs associated with pigment production in 438 individuals from Southern Brazil.
  • Application of bioinformatics and machine learning techniques for genotype-phenotype association.
  • Development of the BR-FDP-EYE system with multiple classification options.

Main Results:

  • The BR-FDP-EYE system achieved an overall accuracy of up to 85% for eye color prediction.
  • A five-class classifier (BR-FDP-EYE-5) showed high sensitivity for Blue and Dark Brown eyes but lower for others.
  • Three-class classifiers (BR-FDP-EYE-3-I, -II, -III) improved overall accuracy and per-class metrics for targeted applications.

Conclusions:

  • The BR-FDP-EYE system effectively predicts eye color using a selected set of SNPs.
  • The system's flexible classification options enhance its utility for various forensic and research needs.
  • BR-FDP-EYE provides a user-friendly tool for genetics, anthropology, and potential law enforcement investigations.