Recommendations for reporting results of diagnostic genomic testing

Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continu...

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Autores principales: Deans, Zandra C., Ahn, Joo Wook, Carreira, Isabel M., Dequeker, Elisabeth, Henderson, Mick, Lovrecic, Luca, Õunap, Katrin, Tabiner, Melody, Treacy, Rebecca, van Asperen, Christi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436979/
https://www.ncbi.nlm.nih.gov/pubmed/35361922
http://dx.doi.org/10.1038/s41431-022-01091-0
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author Deans, Zandra C.
Ahn, Joo Wook
Carreira, Isabel M.
Dequeker, Elisabeth
Henderson, Mick
Lovrecic, Luca
Õunap, Katrin
Tabiner, Melody
Treacy, Rebecca
van Asperen, Christi J.
author_facet Deans, Zandra C.
Ahn, Joo Wook
Carreira, Isabel M.
Dequeker, Elisabeth
Henderson, Mick
Lovrecic, Luca
Õunap, Katrin
Tabiner, Melody
Treacy, Rebecca
van Asperen, Christi J.
author_sort Deans, Zandra C.
collection PubMed
description Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continued to evolve over the past decade, the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) published in 2014 have been reviewed and updated to provide the genomic community with guidance on reporting unambiguous results.
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spelling pubmed-94369792022-09-03 Recommendations for reporting results of diagnostic genomic testing Deans, Zandra C. Ahn, Joo Wook Carreira, Isabel M. Dequeker, Elisabeth Henderson, Mick Lovrecic, Luca Õunap, Katrin Tabiner, Melody Treacy, Rebecca van Asperen, Christi J. Eur J Hum Genet Article Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continued to evolve over the past decade, the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) published in 2014 have been reviewed and updated to provide the genomic community with guidance on reporting unambiguous results. Springer International Publishing 2022-04-01 2022-09 /pmc/articles/PMC9436979/ /pubmed/35361922 http://dx.doi.org/10.1038/s41431-022-01091-0 Text en © The Author(s) 2022 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Deans, Zandra C.
Ahn, Joo Wook
Carreira, Isabel M.
Dequeker, Elisabeth
Henderson, Mick
Lovrecic, Luca
Õunap, Katrin
Tabiner, Melody
Treacy, Rebecca
van Asperen, Christi J.
Recommendations for reporting results of diagnostic genomic testing
title Recommendations for reporting results of diagnostic genomic testing
title_full Recommendations for reporting results of diagnostic genomic testing
title_fullStr Recommendations for reporting results of diagnostic genomic testing
title_full_unstemmed Recommendations for reporting results of diagnostic genomic testing
title_short Recommendations for reporting results of diagnostic genomic testing
title_sort recommendations for reporting results of diagnostic genomic testing
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436979/
https://www.ncbi.nlm.nih.gov/pubmed/35361922
http://dx.doi.org/10.1038/s41431-022-01091-0
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