Development and inter-laboratory validation of the VISAGE enhanced tool for age estimation from semen using quantitative DNA methylation analysis

Abstract

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Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

“…The VISAGE ( Vis ible A ttributes Through Ge nomics) Consortium, which consists of 13 partners from academic, police, and justice institutions in 8 European countries, has established new scientific knowledge and developed and tested prototype tools for DNA analysis and statistical interpretation as well as conducted education for stakeholders. In the 2019 to 2022 time window of this review, this concerted effort produced 45 one review article [ 417 ], 22 original research publications [ 337 , [420] , [421] , [422] , [423] , [424] , [425] , [426] , [427] , [428] , [429] , [430] , [431] , [432] , [433] , [434] , [435] , [436] , [437] , [438] , [439] , [440] ], and three reports [ [441] , [442] , [443] ].…”

Applications of massively parallel sequencing in forensic genetics

“…The linear regression model explained 86% of the variation in age, with RMSE = 3.94 years and MAD = 2.97 years. Heidegger et al (2022 ) described the first age estimation model using MPS technology to evaluate 13 CpG sites from 99 semen samples, with the assay validated by five consortium laboratories of the VISAGE project. Then, the assay performance was tested, yielding a MAE of 5.1 years.…”

Pyrosequencing: Current forensic methodology and future applications—a review

“…A wide variety of research papers have been published discussing age prediction using DNA methylation markers with different sequencing/typing techniques. These include pyrosequencing [59,60,74], massively parallel sequencing [75][76][77], and SNaPshot assays [78][79][80], with the majority using pyrosequencing. Different population groups were studied, including Chinese [59,81], Japanese [60], German [26,60], Thai [63], Spanish [64], Iraqi [82], Italian [83], and French [84].…”