Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge

In this study, the molecular profile of different BRCA-associated tumor types was assessed with regard to the classification and annotation of detected BRCA1/2 variants. The aim was to establish guidelines in order to facilitate the interpretation of BRCA1/2 alterations in routine diagnostics. Annot...

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Detalles Bibliográficos
Autores principales: Ebner, Silvana, Winkelmann, Ria, Martin, Saskia, Köllermann, Jens, Wild, Peter J., Demes, Melanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893798/
https://www.ncbi.nlm.nih.gov/pubmed/35251494
http://dx.doi.org/10.18632/oncotarget.28213

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893798/
https://www.ncbi.nlm.nih.gov/pubmed/35251494
http://dx.doi.org/10.18632/oncotarget.28213

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