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Review
. 2023 Jul:65:102870.
doi: 10.1016/j.fsigen.2023.102870. Epub 2023 Apr 6.

Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age

Manfred Kayser  1 , Wojciech Branicki  2 , Walther Parson  3 , Christopher Phillips  4
Affiliations
Free article
Review

Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age

Manfred Kayser et al. Forensic Sci Int Genet. 2023 Jul.
Free article

Abstract

Forensic DNA Phenotyping (FDP) comprises the prediction of a person's externally visible characteristics regarding appearance, biogeographic ancestry and age from DNA of crime scene samples, to provide investigative leads to help find unknown perpetrators that cannot be identified with forensic STR-profiling. In recent years, FDP has advanced considerably in all of its three components, which we summarize in this review article. Appearance prediction from DNA has broadened beyond eye, hair and skin color to additionally comprise other traits such as eyebrow color, freckles, hair structure, hair loss in men, and tall stature. Biogeographic ancestry inference from DNA has progressed from continental ancestry to sub-continental ancestry detection and the resolving of co-ancestry patterns in genetically admixed individuals. Age estimation from DNA has widened beyond blood to more somatic tissues such as saliva and bones as well as new markers and tools for semen. Technological progress has allowed forensically suitable DNA technology with largely increased multiplex capacity for the simultaneous analysis of hundreds of DNA predictors with targeted massively parallel sequencing (MPS). Forensically validated MPS-based FDP tools for predicting from crime scene DNA i) several appearance traits, ii) multi-regional ancestry, iii) several appearance traits together with multi-regional ancestry, and iv) age from different tissue types, are already available. Despite recent advances that will likely increase the impact of FDP in criminal casework in the near future, moving reliable appearance, ancestry and age prediction from crime scene DNA to the level of detail and accuracy police investigators may desire, requires further intensified scientific research together with technical developments and forensic validations as well as the necessary funding.

Keywords: Age; Appearance; Biogeographic ancestry; Forensic DNA Phenotyping; Massively parallel sequencing; Predictive DNA analysis.

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Conflict of interest statement

Declaration of Competing Interest All authors were part of the EU Horizon2020-funded VISAGE Consortium and Project (http://www.visage-h2020.eu) that worked on improving, integrating, implementing, disseminating, and socially and ethically assessing Forensic DNA Phenotyping on appearance, bio-geographic ancestry and age. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. MK is a co-inventor of the patent EP2195448A1 “Method to predict iris color” but has not received license fees or royalties from this.

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