Universität zu Köln

Xavier, Catarina, de la Puente, Maria, Mosquera-Miguel, Ana, Freire-Aradas, Ana, Kalamara, Vivian, Vidaki, Athina, Gross, Theresa E., Revoir, Andrew, Pospiech, Ewelina ORCID: 0000-0001-8867-0727, Kartasinska, Ewa, Spolnicka, Magdalena, Branicki, Wojciech ORCID: 0000-0002-7412-5733, Ames, Carole E., Schneider, Peter M., Hohoff, Carsten, Kayser, Manfred, Phillips, Christopher and Parson, Walther (2020). Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA. Forensic Sci. Int.-Genet., 48. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Xavier, Catarina UNSPECIFIED UNSPECIFIED UNSPECIFIED de la Puente, Maria UNSPECIFIED UNSPECIFIED UNSPECIFIED Mosquera-Miguel, Ana UNSPECIFIED UNSPECIFIED UNSPECIFIED Freire-Aradas, Ana UNSPECIFIED UNSPECIFIED UNSPECIFIED Kalamara, Vivian UNSPECIFIED UNSPECIFIED UNSPECIFIED Vidaki, Athina UNSPECIFIED UNSPECIFIED UNSPECIFIED Gross, Theresa E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Revoir, Andrew UNSPECIFIED UNSPECIFIED UNSPECIFIED Pospiech, Ewelina UNSPECIFIED orcid.org/0000-0001-8867-0727 UNSPECIFIED Kartasinska, Ewa UNSPECIFIED UNSPECIFIED UNSPECIFIED Spolnicka, Magdalena UNSPECIFIED UNSPECIFIED UNSPECIFIED Branicki, Wojciech UNSPECIFIED orcid.org/0000-0002-7412-5733 UNSPECIFIED Ames, Carole E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schneider, Peter M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hohoff, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Kayser, Manfred UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, Christopher UNSPECIFIED UNSPECIFIED UNSPECIFIED Parson, Walther UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-321379
DOI:	10.1016/j.fsigen.2020.102336
Journal or Publication Title:	Forensic Sci. Int.-Genet.
Volume:	48
Date:	2020
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1878-0326
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language INTER-LABORATORY EVALUATION; EYE COLOR; HIRISPLEX SYSTEM; FORENSIC DNA; ASSAY; PANEL; HAIR; MULTIPLEX; CASEWORK; PHENOTYPE Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32137