BR-FDP-EYE: Brazilian Forensic DNA eye phenotyping

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.