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A collaborative EDNAP exercise on SNaPshot (TM)-based mtDNA control region typing

Authors :
Cordula Haas
Lakshmi Chaitanya
Manfred Kayser
P. Woliński
K. Baca
Claus Børsting
Vania Pereira
J. Červenáková
Ana Mosquera-Miguel
Michael D. Coble
Fabrice Noel
Francesca Brisighelli
Magdalena Bogus
Walther Parson
Stijn Desmyter
M. Turanská
Natalie E.C. Weiler
Arnoud J. Kal
M. João Porto
A. Kúdelová
Niels Morling
Titia Sijen
K.J. van der Gaag
V. Decroyer
Peter M. Schneider
Christopher Phillips
F. Balsa
Athina Vidaki
L. Zatkalíková
David Ballard
Josephin Heinrich
D. Syndercombe Court
Katherine Butler Gettings
Genetic Identification
Source :
Weiler, N E C, Baca, K, Ballard, D, Balsa, F, Bogus, M, Børsting, C, Brisighelli, F, Červenáková, J, Chaitanya, L, Coble, M, Decroyer, V, Desmyter, S, van der Gaag, K J, Gettings, K, Haas, C, Heinrich, J, João Porto, M, Kal, A J, Kayser, M, Kúdelová, A, Morling, N, Mosquera-Miguel, A, Noel, F, Parson, W, Pereira, V, Phillips, C, Schneider, P M, Syndercombe-Court, D, Turanska, M, Vidaki, A, Woliński, P, Zatkalíková, L & Sijen, T 2017, ' A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing ', Forensic Science International-Genetics, vol. 26, pp. 77-84 . https://doi.org/10.1016/j.fsigen.2016.10.014, Forensic Science International: Genetics, 26, 77-84. Elsevier Ireland Ltd, Weiler, NEC, Baca, K, Ballard, D, Balsa, F, Bogu, M, Børsting, C, Brisighelli, F, Červenáková, J, Chaitanya, L, Coble, M, Decroyer, V, Desmyter, S, van der Gaag, KJ, Gettings, K, Haas, C, Heinrich, J, Porto, MJ, Kal, AJ, Kayser, M, Kúdelová, A, Morling, N, Mosquera-Miguel, A, Noel, F, Parson, W, Pereira, V, Phillips, C, Schneider, PM, Syndercombe-Court, D, Turanska, M, Vidaki, A, Wolioski, P, Zatkalíková, L & Sijen, T 2017, ' A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing ', Forensic Science International: Genetics, vol. 26, pp. 77–84 . https://doi.org/10.1016/j.fsigen.2016.10.014
Publication Year :
2017
Publisher :
Elsevier Ireland Ltd, 2017.

Abstract

A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot™-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.

Details

ISSN :
18724973
Volume :
26
Database :
OpenAIRE
Journal :
Forensic Science International: Genetics
Accession number :
edsair.doi.dedup.....c02dba4011278f3cb093b02908868039
Full Text :
https://doi.org/10.1016/j.fsigen.2016.10.014