Progress in the implementation of massively parallel sequencing for forensic genetics: results of a European-wide survey among professional users

Abstract

A European-wide online survey was conducted to generate an overview on the state-of-the-art using massively parallel sequencing (MPS) platforms for forensic DNA analysis and DNA phenotyping among forensic practitioners in Europe. The survey was part of the dissemination activities of the “VISible Attributes through GEnomics – VISAGE” Horizon 2020 funded European research project [30], in preparation of a series of educational training activities. A total of 105 replies from 32 European countries representing participants from police, governmental, academic, and private laboratories providing professional services in the field of forensic genetics were included in the final analysis. Of these, 73% already own an MPS platform or are planning to acquire one within the next 1–2 years. One-third of the participants have already carried out MPS-based STR sequencing, identity, or ancestry SNP typing. A total of 23–40% of participants are planning to explore all FDP applications showing the overall very high interest in using MPS for the whole range of forensic MPS markers and applications. About 50% of the participants have previously gathered experience using forensic DNA phenotyping (FDP) markers based on conventional (i.e., not MPS-based) DNA typing methods. A total of 55% of the participants have attended training on the general use of MPS technology, but 36% have received no training whatsoever. Accordingly, 90% have expressed high or medium interest to attend training on the analysis and interpretation of DNA phenotyping data for predicting appearance, ancestry, and age. The results of our survey will provide valuable information for organizing relevant training workshops on all aspects of MPS-based DNA phenotyping for the forensic genetics scientific community.

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

“…This guide discusses how NGS works and its advantages and disadvantages, the various instrument platforms and commercial kits available with approximate costs, items to consider regarding facilities, data storage, and personnel training, and resources for implementing NGS technology. A total of 73% of 105 forensic DNA laboratories surveyed from 32 European countries already own an MPS platform or plan to acquire one in the next year or two and one-third of the survey participants already conduct MPS-based STR sequencing, identity, or ancestry SNP typing [ 337 ].…”

“…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] ].…”

Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction

“…To further improve the prediction of human eye color, quantitative characterization of eye color phenotypes has been adopted using high-resolution photographic images of the iris in combination with DIAT software analysis, with the aim of increasing understanding of human variability in this character. Advanced machine learning approaches, such as the progress on the implementation of MPS for forensic purposes, i.e., phenotypic trait prediction in ancient DNA analysis, showed a significant increase in sensitivity for color prediction [ 87 , 88 , 89 , 90 ]. Another challenge may be the development of universal genomic predictive methods with the goal of collecting sufficiently large data sets using whole-genome sequencing (WGS) technology and enabling the identification of rare DNA variants implicated in phenotype determination [ 91 ].…”

Evolution of single‐nucleotide polymorphism use in forensic genetics

“…Unlike STRs, SNPs represent single-nucleotide variability (see Figure 1) and, with their abundance in the human genome, amenability to smaller amplicons for amplification, and potential avenues for automation, are ideal candidates for low-quality, low-quantity samples or scenarios where traditional approaches fail to generate sufficient information for identity or kinship determination(s). In addition, as technologies continue to evolve, more specifically with the growing adoption of high-throughput sequencing technologies in forensic laboratories (Gross et al, 2021), the routine use of SNP loci in humanitarian and casework applications is expected.…”