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

NEC Weiler; K Baca; D Ballard; F Balsa; M Bogu; Claus Børsting; F Brisighelli; J Červenáková; L Chaitanya; M Coble; V Decroyer; S Desmyter; KJ van der Gaag; K Gettings; C Haas; J Heinrich; MJ Porto; AJ Kal; M Kayser; A Kúdelová; Niels Morling; A Mosquera-Miguel; F Noel; W Parson; Vania Pereira; C Phillips; PM Schneider; D Syndercombe-Court; M Turanska; A Vidaki; P Wolioski; L Zatkalíková; T Sijen

doi:10.1016/j.fsigen.2016.10.014

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

NEC Weiler, K Baca, D Ballard, F Balsa, M Bogu, Claus Børsting, F Brisighelli, J Červenáková, L Chaitanya, M Coble, V Decroyer, S Desmyter, KJ van der Gaag, K Gettings, C Haas, J Heinrich, MJ Porto, AJ Kal, M Kayser, A KúdelováNiels Morling, A Mosquera-Miguel, F Noel, W Parson, Vania Pereira, C Phillips, PM Schneider, D Syndercombe-Court, M Turanska, A Vidaki, P Wolioski, L Zatkalíková, T Sijen

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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.

Original language	English
Journal	Forensic Science International: Genetics
Volume	26
Pages (from-to)	77–84
Number of pages	8
ISSN	1872-4973
DOIs	https://doi.org/10.1016/j.fsigen.2016.10.014
Publication status	Published - 1 Jan 2017

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A_collaborative_EDNAP_exercise_on_SNaPshot™-based_mtDNA_control_region_typing_2017_acceptedAccepted author manuscript, 779 KBLicence: CC BY-NC-ND

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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., ... Sijen, T. (2017). A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing. Forensic Science International: Genetics, 26, 77–84. https://doi.org/10.1016/j.fsigen.2016.10.014

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

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title = "A collaborative EDNAP exercise on SNaPshot{\texttrademark}-based mtDNA control region typing",

abstract = "A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot{\texttrademark}-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.",

author = "NEC Weiler and K Baca and D Ballard and F Balsa and M Bogu and Claus B{\o}rsting and F Brisighelli and J {\v C}erven{\'a}kov{\'a} and L Chaitanya and M Coble and V Decroyer and S Desmyter and {van der Gaag}, KJ and K Gettings and C Haas and J Heinrich and MJ Porto and AJ Kal and M Kayser and A K{\'u}delov{\'a} and Niels Morling and A Mosquera-Miguel and F Noel and W Parson and Vania Pereira and C Phillips and PM Schneider and D Syndercombe-Court and M Turanska and A Vidaki and P Wolioski and L Zatkal{\'i}kov{\'a} and T Sijen",

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doi = "10.1016/j.fsigen.2016.10.014",

language = "English",

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pages = "77–84",

journal = "Forensic Science International: Genetics",

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T1 - A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing

AU - Weiler, NEC

AU - Baca, K

AU - Ballard, D

AU - Balsa, F

AU - Bogu, M

AU - Børsting, Claus

AU - Brisighelli, F

AU - Červenáková, J

AU - Chaitanya, L

AU - Coble, M

AU - Decroyer, V

AU - Desmyter, S

AU - van der Gaag, KJ

AU - Gettings, K

AU - Haas, C

AU - Heinrich, J

AU - Porto, MJ

AU - Kal, AJ

AU - Kayser, M

AU - Kúdelová, A

AU - Morling, Niels

AU - Mosquera-Miguel, A

AU - Noel, F

AU - Parson, W

AU - Pereira, Vania

AU - Phillips, C

AU - Schneider, PM

AU - Syndercombe-Court, D

AU - Turanska, M

AU - Vidaki, A

AU - Wolioski, P

AU - Zatkalíková, L

AU - Sijen, T

PY - 2017/1/1

Y1 - 2017/1/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.fsigen.2016.10.014

DO - 10.1016/j.fsigen.2016.10.014

M3 - Journal article

C2 - 27816849

SN - 1872-4973

VL - 26

SP - 77

EP - 84

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

ER -

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

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