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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Detalles Bibliográficos
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
Descripción
Sumario: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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