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,...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Article
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

Internet

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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