Universität zu Köln

Eduardoff, M., Gross, T. E., Santos, C., de la Puente, M., Ballard, D., Strobl, C., Borsting, C., Morling, N., Fusco, L., Hussing, C., Egyed, B., Souto, L., Uacyisrael, J., Court, D. Syndercombe, Carracedo, A., Lareu, M. V., Schneider, P. M., Parson, W., Phillips, C., Parson, W. and Phillips, C. (2016). Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM (TM). Forensic Sci. Int.-Genet., 23. S. 178 - 190. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

The EUROFORGEN Global ancestry-informative SNP (AIM-SNPs) panel is a forensic multiplex of 128 markers designed to differentiate an individual's ancestry from amongst the five continental population groups of Africa, Europe, East Asia, Native America, and Oceania. A custom multiplex of AmpliSeq (TM) PCR primers was designed for the Global AIM-SNPs to perform massively parallel sequencing using the Ion PGM (TM) system. This study assessed individual SNP genotyping precision using the Ion PGM (TM), the forensic sensitivity of the multiplex using dilution series, degraded DNA plus simple mixtures, and the ancestry differentiation power of the final panel design, which required substitution of three original ancestry-informative SNPs with alternatives. Fourteen populations that had not been previously analyzed were genotyped using the custom multiplex and these studies allowed assessment of genotyping performance by comparison of data across five laboratories. Results indicate a low level of genotyping error can still occur from sequence misalignment caused by homopolymeric tracts close to the target SNP, despite careful scrutiny of candidate SNPs at the design stage. Such sequence misalignment required the exclusion of component SNP rs2080161 from the Global AIM-SNPs panel. However, the overall genotyping precision and sensitivity of this custom multiplex indicates the Ion PGM (TM) assay for the Global AIM-SNPs is highly suitable for forensic ancestry analysis with massively parallel sequencing. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Eduardoff, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gross, T. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Santos, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED de la Puente, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ballard, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Strobl, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Borsting, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Morling, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fusco, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hussing, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Egyed, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Souto, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Uacyisrael, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Court, D. Syndercombe UNSPECIFIED UNSPECIFIED UNSPECIFIED Carracedo, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lareu, M. V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schneider, P. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parson, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parson, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-271442
DOI:	10.1016/j.fsigen.2016.04.008
Journal or Publication Title:	Forensic Sci. Int.-Genet.
Volume:	23
Page Range:	S. 178 - 190
Date:	2016
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1878-0326
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENOTYPE; IDENTIFICATION; DIVERSITY; INFERENCE; GEOGRAPHY; PROGRAM; ASSAY Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27144