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:
CreatorsEmailORCIDORCID Put Code
Xavier, CatarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de la Puente, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mosquera-Miguel, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Freire-Aradas, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kalamara, VivianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vidaki, AthinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross, Theresa E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Revoir, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pospiech, EwelinaUNSPECIFIEDorcid.org/0000-0001-8867-0727UNSPECIFIED
Kartasinska, EwaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spolnicka, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Branicki, WojciechUNSPECIFIEDorcid.org/0000-0002-7412-5733UNSPECIFIED
Ames, Carole E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, Peter M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hohoff, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayser, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Phillips, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parson, WaltherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
INTER-LABORATORY EVALUATION; EYE COLOR; HIRISPLEX SYSTEM; FORENSIC DNA; ASSAY; PANEL; HAIR; MULTIPLEX; CASEWORK; PHENOTYPEMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/32137

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