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Guidelines for diagnostic next-generation sequencing

We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, an...

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Autores principales: Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226/
https://www.ncbi.nlm.nih.gov/pubmed/26508566
http://dx.doi.org/10.1038/ejhg.2015.226
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author Matthijs, Gert
Souche, Erika
Alders, Mariëlle
Corveleyn, Anniek
Eck, Sebastian
Feenstra, Ilse
Race, Valérie
Sistermans, Erik
Sturm, Marc
Weiss, Marjan
Yntema, Helger
Bakker, Egbert
Scheffer, Hans
Bauer, Peter
author_facet Matthijs, Gert
Souche, Erika
Alders, Mariëlle
Corveleyn, Anniek
Eck, Sebastian
Feenstra, Ilse
Race, Valérie
Sistermans, Erik
Sturm, Marc
Weiss, Marjan
Yntema, Helger
Bakker, Egbert
Scheffer, Hans
Bauer, Peter
author_sort Matthijs, Gert
collection PubMed
description We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients' representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a ‘rating system' for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.
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spelling pubmed-47952262016-03-22 Guidelines for diagnostic next-generation sequencing Matthijs, Gert Souche, Erika Alders, Mariëlle Corveleyn, Anniek Eck, Sebastian Feenstra, Ilse Race, Valérie Sistermans, Erik Sturm, Marc Weiss, Marjan Yntema, Helger Bakker, Egbert Scheffer, Hans Bauer, Peter Eur J Hum Genet Policy We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients' representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a ‘rating system' for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe. Nature Publishing Group 2016-01 2015-10-28 /pmc/articles/PMC4795226/ /pubmed/26508566 http://dx.doi.org/10.1038/ejhg.2015.226 Text en Copyright © 2016 Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Policy
Matthijs, Gert
Souche, Erika
Alders, Mariëlle
Corveleyn, Anniek
Eck, Sebastian
Feenstra, Ilse
Race, Valérie
Sistermans, Erik
Sturm, Marc
Weiss, Marjan
Yntema, Helger
Bakker, Egbert
Scheffer, Hans
Bauer, Peter
Guidelines for diagnostic next-generation sequencing
title Guidelines for diagnostic next-generation sequencing
title_full Guidelines for diagnostic next-generation sequencing
title_fullStr Guidelines for diagnostic next-generation sequencing
title_full_unstemmed Guidelines for diagnostic next-generation sequencing
title_short Guidelines for diagnostic next-generation sequencing
title_sort guidelines for diagnostic next-generation sequencing
topic Policy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226/
https://www.ncbi.nlm.nih.gov/pubmed/26508566
http://dx.doi.org/10.1038/ejhg.2015.226
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