Forensic DNA Phenotyping: A Review on SNP Panels, Genotyping Techniques, and Prediction Models

March 2024 in “ Forensic Sciences Research ”

Nuria Terrado-Ortuño, Patrick May

TLDR Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.

The review on forensic DNA phenotyping (FDP) explores the use of single nucleotide polymorphism (SNP) panels to predict biogeographical ancestry (BGA) and externally visible characteristics (EVC). It identifies 48 panels for BGA, 43 for EVC, and 15 for both, highlighting the lack of standardization in methodologies and terminology. The review discusses challenges in selecting genetic markers due to environmental influences and debates over genotyping technologies and prediction models. It emphasizes the need for harmonization, forensic validation, and addressing ethical, social, and legal considerations. The document also highlights the potential of FDP in forensic investigations, despite challenges in predicting complex traits like pigmentation, facial morphology, and hair characteristics. Notable systems like HIrisPlex and its updates are recognized for their accuracy in predicting eye and hair color. The review calls for collaboration among researchers and validation across diverse populations to improve FDP's accuracy and reliability.

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