Weiler, N. E. C., Baca, K., Ballard, D., Balsa, F., Bogus, M., Borsting, C., Brisighelli, F., Cervenakova, J., Chaitanya, L., Coble, M., Decroyer, V., Desmyter, S., van der Gaag, K. J., Gettings, K., Haas, C., Heinrich, J., Porto, M. Joao, Kal, A. J., Kayser, M., Kudelova, A., Morling, N., Mosquera-Miguel, A., Noel, F., Parson, W., Pereira, V., Phillips, C., Schneider, P. M., Court, D. Syndercombe, Turanska, M., Vidaki, A., Wolinski, P., Zatkalikova, L. and Sijen, T. (2017). A collaborative EDNAP exercise on SNaPshot (TM)-based mtDNA control region typing. Forensic Sci. Int.-Genet., 26. S. 77 - 85. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot (TM)-based screening assay (denoted mini-mtSNaPshot) (Weiler et al., 2016) [1] that targets 18 single nucleotide polymorphism (SNP) positions in the mitochondrial (mt) DNA control region and allows for discrimination of major European mtDNA haplogroups. Besides the organising laboratory, 14 forensic genetics laboratories were involved in the analysis of 13 samples, which were centrally prepared and thoroughly tested prior to shipment. The samples had a variable complexity and comprised straightforward single-source samples, samples with dropout or altered peak sizing, a point heteroplasmy and two-component mixtures resulting in one to five bi-allelic calls. The overall success rate in obtaining useful results was high (97.6%) given that some of the participating laboratories had no previous experience with the typing technology and/or mtDNA analysis. The majority of the participants proceeded to haplotype inference to assess the feasibility of assigning a haplogroup and checking phylogenetic consistency when only 18 SNPs are typed. To mimic casework procedures, the participants compared the SNP typing data of all 13 samples to a set of eight mtDNA reference profiles that were described according to standard nomenclature (Parson et al., 2014) [2], and indicated whether these references matched each sample or not. Incorrect scorings were obtained for 2% of the comparisons and derived from a subset of the participants, indicating a need for training and guidelines regarding mini-mtSNaPshot data interpretation. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Weiler, N. E. C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baca, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ballard, D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Balsa, F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogus, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borsting, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brisighelli, F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cervenakova, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chaitanya, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coble, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Decroyer, V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Desmyter, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Gaag, K. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gettings, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haas, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heinrich, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Porto, M. JoaoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kal, A. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayser, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kudelova, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morling, N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mosquera-Miguel, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noel, F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parson, W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pereira, V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Phillips, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, P. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Court, D. SyndercombeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Turanska, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vidaki, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wolinski, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zatkalikova, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sijen, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-248247
DOI: 10.1016/j.fsigen.2016.10.014
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 26
Page Range: S. 77 - 85
Date: 2017
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SINGLE-NUCLEOTIDE POLYMORPHISMS; MITOCHONDRIAL-DNA VARIATION; IDENTIFICATION; HETEROPLASMY; HAPLOGROUPS; SEQUENCES; SAMPLESMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/24824

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