DNA methylation is known as a biomarker for age with applications in forensics. Here we describe the VISAGE (VISible Attributes through GEnomics) Consortium’s enhanced tool for epigenetic age estimation in somatic tissues. The tool is based on eight DNA methylation markers (44 CpGs), bisulfite multiplex PCR followed by sequencing on the MiSeq FGx platform, and three statistical prediction models for blood, buccal cells and bones. The model for blood is based on six CpGs from ELOVL2 , MIR29B2CHG , KLF14 , FHL2 , TRIM59 and PDE4C , and predicts age with a mean absolute error (MAE) of 3.2 years, while the model for buccal cells includes five CpGs from PDE4C , MIR29B2CHG , ELOVL2 , KLF14 and EDARADD and predicts age with MAE of 3.7 years, and the model for bones has six CpGs from ELOVL2, KLF14, PDE4C and ASPA and predicts age with MAE of 3.4 years. The VISAGE enhanced tool for age estimation in somatic tissues enables reliable collection of DNA methylation data from small amounts of DNA using a sensitive multiplex MPS assay that provides accurate estimation of age in blood, buccal swabs, and bones using the statistical model tailored to each tissue.

Forensic DNA phenotyping is gaining interest as the number of applications increases within the forensic genetics community. The possibility of providing investigative leads in addition to conventional DNA profiling for human identification provides new insights into otherwise "cold" police investigations. The ability of reporting on the bio-geographical ancestry (BGA), appearance characteristics and age based on DNA obtained from a crime scene sample of an unknown donor makes the exploration of such markers and the development of new methods meaningful for criminal investigations. The VISible Attributes through GEnomics (VISAGE) Consortium aims to disseminate and broaden the use of predictive markers and develop fully optimized and validated prototypes for forensic casework implementation. Here, the first VISAGE appearance and ancestry tool development, performance and validation is reported. A total of 153 SNPs (96.84 % assay conversion rate) were successfully incorporated into a single multiplex reaction using the AmpliSeq™ design pipeline, and applied for massively parallel sequencing with the Ion S5 platform. A collaborative effort involving six VISAGE laboratory partners was devised to perform all validation tests. An extensive validation plan was carefully organized to explore the assay's overall performance with optimum and low-input samples, as well as with challenging and casework mock samples. In addition, forensic validation studies such as concordance and mixture tests recurring to the Coriell sample set with known genotypes were performed. Finally, inhibitor tolerance and specificity were also evaluated. Results showed a robust, highly sensitive assay with good overall concordance between laboratories. genetics community to start the development of tools to infer information about the donor of biological traces found at the crime-scene to be used in police investigations to help find unknown perpetrators of crime. These investigative DNA analyses have been termed Forensic DNA Phenotyping (FDP), which includes three components: the inference of bio-geographical ancestry (BGA), the prediction of externally visible characteristics (EVC), and the estimation of chronological age.

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For nearly hundred years, dactyloscopy - as the most effective method of human identification, was treated as the queen of all forensic examination. With the emergence of genetic analysis, particularly when a huge progress in molecular biology and genetics resulted in a more extensive scope of application of biological evidence, the rank of dactyloscopy appears to dissipate. Currently the question is whether it will be completely ruled out of practice or could be utilized alongside genetic examination. For the purpose of verification of theoretical assumptions concerning comprehensive DNA/fingerprint examination opinions and in order to identify potential mistakes which can occur in practice, the analysis of 122 comprehensive opinions from DNA/fingerprint casework examinations was carried out in relation to five police forensic laboratories in Poland in the period between 2010-2013.