A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results

M van den Berge; A Carracedo; I Gomes; E A M Graham; C Haas; Benjamin Benn Hjort; P Hoff-Olsen; O Maroñas; B Mevåg; N Morling; H Niederstätter; W Parson; P M Schneider; D Syndercombe Court; A Vidaki; T Sijen

doi:10.1016/j.fsigen.2014.01.006

A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results

M van den Berge, A Carracedo, I Gomes, E A M Graham, C Haas, Benjamin Benn Hjort, P Hoff-Olsen, O Maroñas, B Mevåg, N Morling, H Niederstätter, W Parson, P M Schneider, D Syndercombe Court, A Vidaki, T Sijen

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Abstract

The European Forensic Genetics Network of Excellence (EUROFORGEN-NoE) undertook a collaborative project on mRNA-based body fluid/skin typing and the interpretation of the resulting RNA and DNA data. Although both body fluids and skin are composed of a variety of cell types with different functions and gene expression profiles, we refer to the procedure as 'cell type inference'. Nine laboratories participated in the project and used a 20-marker multiplex to analyse samples that were centrally prepared and thoroughly tested prior to shipment. Specimens of increasing complexity were assessed that ranged from reference PCR products, cDNAs of indicated or unnamed cell type source(s), to challenging mock casework stains. From this specimen set, information on the overall sensitivity and specificity of the various markers was obtained. In addition, the reliability of a scoring system for inference of cell types was assessed. This scoring system builds on replicate RNA analyses and the ratio observed/possible peaks for each cell type [1]. The results of the exercise support the usefulness of this scoring system. When interpreting the data obtained from the analysis of the mock casework stains, the participating laboratories were asked to integrate the DNA and RNA results and associate donor and cell type where possible. A large variation for the integrated interpretations of the DNA and RNA data was obtained including correct interpretations. We infer that with expertise in analysing RNA profiles, clear guidelines for data interpretation and awareness regarding potential pitfalls in associating donors and cell types, mRNA-based cell type inference can be implemented for forensic casework.

Originalsprog	Engelsk
Tidsskrift	Forensic science international. Genetics
Vol/bind	10
Sider (fra-til)	40-8
Antal sider	9
DOI	https://doi.org/10.1016/j.fsigen.2014.01.006
Status	Udgivet - maj 2014

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10.1016/j.fsigen.2014.01.006

A collaborative European exercise on mRNA-based body fluid-skin typing and interpretation of DNA and RNA results

Citationsformater

van den Berge, M., Carracedo, A., Gomes, I., Graham, E. A. M., Haas, C., Hjort, B. B., Hoff-Olsen, P., Maroñas, O., Mevåg, B., Morling, N., Niederstätter, H., Parson, W., Schneider, P. M., Court, D. S., Vidaki, A., & Sijen, T. (2014). A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results. Forensic science international. Genetics, 10, 40-8. https://doi.org/10.1016/j.fsigen.2014.01.006

van den Berge, M, Carracedo, A, Gomes, I, Graham, EAM, Haas, C, Hjort, BB, Hoff-Olsen, P, Maroñas, O, Mevåg, B, Morling, N, Niederstätter, H, Parson, W, Schneider, PM, Court, DS, Vidaki, A & Sijen, T 2014, 'A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results', Forensic science international. Genetics, bind 10, s. 40-8. https://doi.org/10.1016/j.fsigen.2014.01.006

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title = "A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results",

abstract = "The European Forensic Genetics Network of Excellence (EUROFORGEN-NoE) undertook a collaborative project on mRNA-based body fluid/skin typing and the interpretation of the resulting RNA and DNA data. Although both body fluids and skin are composed of a variety of cell types with different functions and gene expression profiles, we refer to the procedure as 'cell type inference'. Nine laboratories participated in the project and used a 20-marker multiplex to analyse samples that were centrally prepared and thoroughly tested prior to shipment. Specimens of increasing complexity were assessed that ranged from reference PCR products, cDNAs of indicated or unnamed cell type source(s), to challenging mock casework stains. From this specimen set, information on the overall sensitivity and specificity of the various markers was obtained. In addition, the reliability of a scoring system for inference of cell types was assessed. This scoring system builds on replicate RNA analyses and the ratio observed/possible peaks for each cell type [1]. The results of the exercise support the usefulness of this scoring system. When interpreting the data obtained from the analysis of the mock casework stains, the participating laboratories were asked to integrate the DNA and RNA results and associate donor and cell type where possible. A large variation for the integrated interpretations of the DNA and RNA data was obtained including correct interpretations. We infer that with expertise in analysing RNA profiles, clear guidelines for data interpretation and awareness regarding potential pitfalls in associating donors and cell types, mRNA-based cell type inference can be implemented for forensic casework.",

author = "{van den Berge}, M and A Carracedo and I Gomes and Graham, {E A M} and C Haas and Hjort, {Benjamin Benn} and P Hoff-Olsen and O Maro{\~n}as and B Mev{\aa}g and N Morling and H Niederst{\"a}tter and W Parson and Schneider, {P M} and Court, {D Syndercombe} and A Vidaki and T Sijen",

year = "2014",

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doi = "10.1016/j.fsigen.2014.01.006",

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AU - van den Berge, M

AU - Carracedo, A

AU - Gomes, I

AU - Graham, E A M

AU - Haas, C

AU - Hjort, Benjamin Benn

AU - Hoff-Olsen, P

AU - Maroñas, O

AU - Mevåg, B

AU - Morling, N

AU - Niederstätter, H

AU - Parson, W

AU - Schneider, P M

AU - Court, D Syndercombe

AU - Vidaki, A

AU - Sijen, T

PY - 2014/5

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N2 - The European Forensic Genetics Network of Excellence (EUROFORGEN-NoE) undertook a collaborative project on mRNA-based body fluid/skin typing and the interpretation of the resulting RNA and DNA data. Although both body fluids and skin are composed of a variety of cell types with different functions and gene expression profiles, we refer to the procedure as 'cell type inference'. Nine laboratories participated in the project and used a 20-marker multiplex to analyse samples that were centrally prepared and thoroughly tested prior to shipment. Specimens of increasing complexity were assessed that ranged from reference PCR products, cDNAs of indicated or unnamed cell type source(s), to challenging mock casework stains. From this specimen set, information on the overall sensitivity and specificity of the various markers was obtained. In addition, the reliability of a scoring system for inference of cell types was assessed. This scoring system builds on replicate RNA analyses and the ratio observed/possible peaks for each cell type [1]. The results of the exercise support the usefulness of this scoring system. When interpreting the data obtained from the analysis of the mock casework stains, the participating laboratories were asked to integrate the DNA and RNA results and associate donor and cell type where possible. A large variation for the integrated interpretations of the DNA and RNA data was obtained including correct interpretations. We infer that with expertise in analysing RNA profiles, clear guidelines for data interpretation and awareness regarding potential pitfalls in associating donors and cell types, mRNA-based cell type inference can be implemented for forensic casework.

AB - The European Forensic Genetics Network of Excellence (EUROFORGEN-NoE) undertook a collaborative project on mRNA-based body fluid/skin typing and the interpretation of the resulting RNA and DNA data. Although both body fluids and skin are composed of a variety of cell types with different functions and gene expression profiles, we refer to the procedure as 'cell type inference'. Nine laboratories participated in the project and used a 20-marker multiplex to analyse samples that were centrally prepared and thoroughly tested prior to shipment. Specimens of increasing complexity were assessed that ranged from reference PCR products, cDNAs of indicated or unnamed cell type source(s), to challenging mock casework stains. From this specimen set, information on the overall sensitivity and specificity of the various markers was obtained. In addition, the reliability of a scoring system for inference of cell types was assessed. This scoring system builds on replicate RNA analyses and the ratio observed/possible peaks for each cell type [1]. The results of the exercise support the usefulness of this scoring system. When interpreting the data obtained from the analysis of the mock casework stains, the participating laboratories were asked to integrate the DNA and RNA results and associate donor and cell type where possible. A large variation for the integrated interpretations of the DNA and RNA data was obtained including correct interpretations. We infer that with expertise in analysing RNA profiles, clear guidelines for data interpretation and awareness regarding potential pitfalls in associating donors and cell types, mRNA-based cell type inference can be implemented for forensic casework.

U2 - 10.1016/j.fsigen.2014.01.006

DO - 10.1016/j.fsigen.2014.01.006

M3 - Journal article

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SN - 1872-4973

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SP - 40

EP - 48

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

ER -

A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results

Abstract

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