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Human sample authentication in biomedical research: comparison of two platforms

Samples used in biomedical research are often collected over years, in some cases from subjects that may have died and thus cannot be retrieved in any way. The value of these samples is priceless. Sample misidentification or mix-up are unfortunately common problems in biomedical research and can eve...

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Autores principales: Manjunath, Harshitha Shobha, James, Nicola, Mathew, Rebecca, Al Hashmi, Muna, Silcock, Lee, Biunno, Ida, De Blasio, Pasquale, Manickam, Chidambaram, Tomei, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263568/
https://www.ncbi.nlm.nih.gov/pubmed/34234171
http://dx.doi.org/10.1038/s41598-021-92978-3
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author Manjunath, Harshitha Shobha
James, Nicola
Mathew, Rebecca
Al Hashmi, Muna
Silcock, Lee
Biunno, Ida
De Blasio, Pasquale
Manickam, Chidambaram
Tomei, Sara
author_facet Manjunath, Harshitha Shobha
James, Nicola
Mathew, Rebecca
Al Hashmi, Muna
Silcock, Lee
Biunno, Ida
De Blasio, Pasquale
Manickam, Chidambaram
Tomei, Sara
author_sort Manjunath, Harshitha Shobha
collection PubMed
description Samples used in biomedical research are often collected over years, in some cases from subjects that may have died and thus cannot be retrieved in any way. The value of these samples is priceless. Sample misidentification or mix-up are unfortunately common problems in biomedical research and can eventually result in the publication of incorrect data. Here we have compared the Fluidigm SNPtrace and the Agena iPLEX Sample ID panels for the authentication of human genomic DNA samples. We have tested 14 pure samples and simulated their cross-contamination at different percentages (2%, 5%, 10%, 25% and 50%). For both panels, we report call rate, allele intensity/probability score, performance in distinguishing pure samples and contaminated samples at different percentages, and sex typing. We show that both panels are reliable and efficient methods for sample authentication and we highlight their advantages and disadvantages. We believe that the data provided here is useful for sample authentication especially in biorepositories and core facility settings.
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spelling pubmed-82635682021-07-09 Human sample authentication in biomedical research: comparison of two platforms Manjunath, Harshitha Shobha James, Nicola Mathew, Rebecca Al Hashmi, Muna Silcock, Lee Biunno, Ida De Blasio, Pasquale Manickam, Chidambaram Tomei, Sara Sci Rep Article Samples used in biomedical research are often collected over years, in some cases from subjects that may have died and thus cannot be retrieved in any way. The value of these samples is priceless. Sample misidentification or mix-up are unfortunately common problems in biomedical research and can eventually result in the publication of incorrect data. Here we have compared the Fluidigm SNPtrace and the Agena iPLEX Sample ID panels for the authentication of human genomic DNA samples. We have tested 14 pure samples and simulated their cross-contamination at different percentages (2%, 5%, 10%, 25% and 50%). For both panels, we report call rate, allele intensity/probability score, performance in distinguishing pure samples and contaminated samples at different percentages, and sex typing. We show that both panels are reliable and efficient methods for sample authentication and we highlight their advantages and disadvantages. We believe that the data provided here is useful for sample authentication especially in biorepositories and core facility settings. Nature Publishing Group UK 2021-07-07 /pmc/articles/PMC8263568/ /pubmed/34234171 http://dx.doi.org/10.1038/s41598-021-92978-3 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Manjunath, Harshitha Shobha
James, Nicola
Mathew, Rebecca
Al Hashmi, Muna
Silcock, Lee
Biunno, Ida
De Blasio, Pasquale
Manickam, Chidambaram
Tomei, Sara
Human sample authentication in biomedical research: comparison of two platforms
title Human sample authentication in biomedical research: comparison of two platforms
title_full Human sample authentication in biomedical research: comparison of two platforms
title_fullStr Human sample authentication in biomedical research: comparison of two platforms
title_full_unstemmed Human sample authentication in biomedical research: comparison of two platforms
title_short Human sample authentication in biomedical research: comparison of two platforms
title_sort human sample authentication in biomedical research: comparison of two platforms
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263568/
https://www.ncbi.nlm.nih.gov/pubmed/34234171
http://dx.doi.org/10.1038/s41598-021-92978-3
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