DNA Phenotyping: Predicting Physical Characteristics from Genetic Material
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Abstract
DNA phenotyping is an advanced method in forensic science that has emerged and enables the prediction of externally visible characteristics (EVCs) from biological material. DNA phenotyping employs markers such as single nucleotide polymorphisms (SNPs) to predict eye colour, hair colour, skin pigmentation and biogeographical origin. Classical DNA profiling, aimed at individual identification, is based on short tandem repeats (STRs). Recent advances in next-generation sequencing (NGS), epigenetic analysis and analytics have considerably improved the accuracy and range of phenotypic predictions even with limited or degraded DNA material. This has proven to be quite useful in criminal investigations, missing persons and catastrophe victim identification without any suspect or reference profile. However, the accuracy of DNA phenotyping is limited by complex gene–environment interactions and the probabilistic character of the approach for some traits, e.g. facial form. Its widespread use is severely limited by ethical, legal and cultural challenges, such as privacy concerns and the potential for misuse. This review emphasises the importance of DNA phenotyping as an additional tool in current forensic investigations and describes its principles, methodology, applications, limitations and prospects. Forensic Genetics DNA Phenotyping Single Nucleotide Polymorphisms (SNPs) Externally Visible Characteristics (EVCs) Next Generation Sequencing (NGS) Epigenetics Forensic Identification Bioinformatics.
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