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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Impact Journals LLC
2022
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| Materias: | |
| 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 |