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Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics
Next-generation sequencing (NGS) panel analysis on DNA from formalin-fixed paraffin-embedded (FFPE) tissue is increasingly used to also identify actionable copy number gains (gene amplifications) in addition to sequence variants. While guidelines for the reporting of sequence variants are available,...
Autores principales: | Eijkelenboom, Astrid, Tops, Bastiaan B. J., van den Berg, Anke, van den Brule, Adrianus J. C., Dinjens, Winand N. M., Dubbink, Hendrikus J., ter Elst, Arja, Geurts-Giele, Willemina R. R., Groenen, Patricia J. T. A., Groenendijk, Floris H., Heideman, Daniëlle A. M., Huibers, Manon M. H., Huijsmans, Cornelis J. J., Jeuken, Judith W. M., van Kempen, Léon C., Korpershoek, Esther, Kroeze, Leonie I., de Leng, Wendy W. J., van Noesel, Carel J. M., Speel, Ernst-Jan M., Vogel, Maartje J., van Wezel, Tom, Nederlof, Petra M., Schuuring, Ed, Ligtenberg, Marjolijn J. L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581937/ https://www.ncbi.nlm.nih.gov/pubmed/30888490 http://dx.doi.org/10.1007/s00428-019-02555-3 |
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