Universität zu Köln

Xavier, C., de la Puente, M., Mosquera-Miguel, A., Freire-Aradas, A., Kalamara, V., Ralf, A., Revoir, A., Gross, T. E., Schneider, P. M., Ames, C., Hohoff, C., Phillips, C., Kayser, M. and Parson, W. (2022). Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA. Forensic Sci. Int.-Genet., 61. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

Responding to the growing scientific and practical interest in forensic DNA phenotyping, the VISible Attributes through GEnomics (VISAGE) Consortium was founded in 2017 with the main goal of developing and validating new and reliable molecular and statistical tools to predict appearance, ancestry and age from DNA. Here, we describe the development and inter-laboratory evaluation and validation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA. The VISAGE Enhanced Tool for Appearance and Ancestry is the first forensic-driven genetic laboratory tool that comprises well-established markers for eye, hair and skin color with more recently discovered DNA markers for eyebrow color, freckling, hair shape and male pattern baldness and bio-geographic ancestry informative DNA markers. The bio-geographic ancestry markers include autosomal SNPs (bi-and tri-allelic SNPs), X-SNPs, Y-SNPs and autosomal Microhaplotypes. In total, primers targeting 524 SNPs (representing a 97.6% assay conversion rate) were successfully designed using AmpliSeq into a single primer pool (i.e., one multiplex assay) and sequenced with the Ion S5. In a collaborative framework, five VISAGE laboratories tested the VISAGE Enhanced Tool for Appearance and Ancestry on reproducibility, sensitivity, genotyping concordance, mixtures, species specificity and performance in relevant forensic conditions, including inhibitor-spiked, mock casework and artificially degraded samples. Based on our results, the VISAGE Enhanced Tool for Appearance and Ancestry is a robust, reproducible, and - for the large SNP number -fairly sensitive MPS assay with high concordance rates. With the VISAGE Enhanced Tool for Appearance and Ancestry introduced here, the VISAGE Consortium delivers the first single DNA-test for combined appearance prediction based on seven traits together with bio-geographic ancestry inference based on major continental regions for separated bi-parental and paternal ancestry, which represents the most comprehensive validated laboratory tool currently available for Forensic DNA Phenotyping.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Xavier, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED de la Puente, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mosquera-Miguel, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Freire-Aradas, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kalamara, V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ralf, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Revoir, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gross, T. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schneider, P. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ames, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hohoff, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kayser, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parson, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-690020
DOI:	10.1016/j.fsigen.2022.102779
Journal or Publication Title:	Forensic Sci. Int.-Genet.
Volume:	61
Date:	2022
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1878-0326
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language INFORMATIVE SNP PANEL; FORENSIC DNA; PREDICTION; SYSTEM; HAIR; COLOR; ASSAY; EYE Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69002