A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing.
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.
Netherlands Forensic Institute, The Hague, The Netherlands.
N E C
NE
Weiler
Forensic Bureau The Internal Security Agency, Warsaw, Poland.
K
K
Baca
Faculty of Life Sciences and Medicine, King's College London, London, UK.
D
D
Ballard
Forensic Genetics Service, Centre Branch, National Institute of Legal Medicine and Forensic Sciences, Coimbra, Portugal.
F
F
Balsa
Institute of Legal Medicine, Medical Faculty, University of Cologne, Germany.
M
M
Bogus
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
C
C
Børsting
Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.
F
F
Brisighelli
Department of Biology and DNA Analysis, Institute of Forensic Science, Košice, Slovakia.
J
J
Červenáková
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
L
L
Chaitanya
Applied Genetics Group National Institute of Standards and Technology, Gaithersburg, United States.
M
M
Coble
National Institute of Criminalistics and Criminology, Brussels, Belgium.
V
V
Decroyer
National Institute of Criminalistics and Criminology, Brussels, Belgium.
S
S
Desmyter
Netherlands Forensic Institute, The Hague, The Netherlands.
K J
KJ
van der Gaag
Applied Genetics Group National Institute of Standards and Technology, Gaithersburg, United States.
K
K
Gettings
Zurich Institute of Forensic Medicine, University of Zurich, Switzerland.
C
C
Haas
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
J
J
Heinrich
Forensic Genetics Service, Centre Branch, National Institute of Legal Medicine and Forensic Sciences, Coimbra, Portugal.
M
M
João Porto
Netherlands Forensic Institute, The Hague, The Netherlands.
A J
AJ
Kal
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
M
M
Kayser
Department of Biology and DNA Analysis, Institute of Forensic Science, Košice, Slovakia.
A
A
Kúdelová
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
N
N
Morling
Forensic Genetics Unit, Institute of Forensic Science, Genomic Medicine Group, University of Santiago de Compostela, Spain.
A
A
Mosquera-Miguel
National Institute of Criminalistics and Criminology, Brussels, Belgium.
F
F
Noel
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, United States.
W
W
Parson
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
V
V
Pereira
Forensic Genetics Unit, Institute of Forensic Science, Genomic Medicine Group, University of Santiago de Compostela, Spain.
C
C
Phillips
Institute of Legal Medicine, Medical Faculty, University of Cologne, Germany.
P M
PM
Schneider
Faculty of Life Sciences and Medicine, King's College London, London, UK.
D
D
Syndercombe Court
Department of Biology and DNA Analysis, Institute of Forensic Science, Slovenská Ľupča, Slovakia.
M
M
Turanska
Faculty of Life Sciences and Medicine, King's College London, London, UK.
A
A
Vidaki
Forensic Bureau The Internal Security Agency, Warsaw, Poland.
P
P
Woliński
Department of Biology and DNA Analysis, Institute of Forensic Science, Slovenská Ľupča, Slovakia.
L
L
Zatkalíková
Netherlands Forensic Institute, The Hague, The Netherlands. Electronic address: t.sijen@nfi.minvenj.nl.
T
T
Sijen
D016172:DNA Fingerprinting / Q000592:standards*; D004272:DNA, Mitochondrial / Q000235:genetics*; D053803:Forensic Genetics / Q000592:standards; D006239:Haplotypes; D006801:Humans; D007753:Laboratories / Q000592:standards; D020641:Polymorphism, Single Nucleotide
D004272:DNA, Mitochondrial
Forensic science; Haplogroup; Massively parallel sequencing; SNaPshot; mtDNA