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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection
BACKGROUND: In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that freque...
Autores principales: | Velázquez, Carolina, Lastra, Enrique, Avila Cobos, Francisco, Abella, Luis, de la Cruz, Virginia, Hernando, Blanca Ascensión, Hernández, Lara, Martínez, Noemí, Infante, Mar, Durán, Mercedes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288470/ https://www.ncbi.nlm.nih.gov/pubmed/32522261 http://dx.doi.org/10.1186/s12967-020-02391-z |
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