Journal
FORENSIC SCIENCE INTERNATIONAL-GENETICS
Volume 48, Issue -, Pages -Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.fsigen.2020.102336
Keywords
Forensic DNA phenotyping; Appearance and bio-geographical ancestry prediction; MPS Ion S5; AmpliSeq; SNP multiplex
Categories
Funding
- European Union [740580]
- Conselleria de Cultura, Educacion e Ordenacion Universitaria
- Conselleria de Economia, Emprego e Industria from Xunta de Galicia [ED481B 2017/088]
- Conselleria de Cultura, Educacion e Ordenacion Universitaria e da Conselleria de Economia, Emprego e Industria from Xunta de Galicia, Spain [ED481B 2018/010]
- NHGRI [3UM1HG008901-03S1]
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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 AmpliSeqTM 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.
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