Abstract
The possibility of providing investigative leads when conventional DNA identification methods fail to solve a case can be of extreme relevance to law enforcement. Therefore, the forensic genetics community has focused research towards the broadened use of DNA, particularly for prediction of appearance traits, bio-geographical ancestry and age. The VISible Attributes through GEnomics (VISAGE) Consortium expanded the use of DNA phenotyping by developing new molecular and statistical tools for appearance, age and ancestry prediction. The VISAGE basic tool for appearance (EVC) and ancestry (BGA) prediction was initially developed using Ampliseq chemistry, but here is being evaluated using ForenSeq chemistry. The VISAGE basic tool offers a total of 41 EVC and 115 BGA SNPs and thus provides more predictions, i.e., skin color, than achieved with the ForenSeq DNA Signature Prep kit that is based on 24 EVC and 56 BGA SNPs. Five VISAGE laboratories participated in collaborative experiments to provide foreground for developmental validation of the assay. Assessment of assay performance and quality metrics, reproducibility, sensitivity, inhibitor tolerance and species specificity are described. Furthermore, the assay was tested using challenging samples such as mock casework samples and artificially degraded DNA. Two different analysis strategies were applied for this study and output on genotype calls and read depth was compared. Overall, inter-laboratory, inter-method and concordance with publicly available data were analysed and compared. Finally, the results showed a reliable and robust tool, which can be easily applied for laboratories already using a MiSeq FGx with ForenSeq reagents.
Highlights
Forensic DNA phenotyping (FDP) is gaining momentum within the community as it is commonly treated as one of the main recent advancement areas of forensic genetics research
This study evaluated the performance of the VISible Attributes through GEnomics (VISAGE) BT A&A (Ver) kit in five collaborating laboratories
The remaining animals presented low amplification success (6% on average) and fell close to the values observed for the negative control (2.6%)
Summary
Forensic DNA phenotyping (FDP) is gaining momentum within the community as it is commonly treated as one of the main recent advancement areas of forensic genetics research. The term FDP is used to describe markers and methods designed for prediction of appearance, ancestry and age from a DNA sample [1–4]. FDP becomes practically relevant in cases where common DNA identification markers do not provide a successful result, either because no DNA profile(s) from the perpetrator(s) are available or no further investigative leads through intelligence databasing are available. In such cases, law enforcement agents could enhance their investigations with the help of FDP results by reducing the pool of suspects or prioritizing investigations [4,5]. Companies are continuing their efforts to provide new assays either exclusively dedi cated to FDP, for example the Precision ID Ancestry Panel [13] and the Ion AmpliSeq DNA Phenotyping Panel (based on [14]) from Thermo Fisher Scientific, or in combination with genetic identification markers
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