Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includ...

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Detalles Bibliográficos
Autores principales: Germani, Aldo, Libi, Fabio, Maggi, Stefano, Stanzani, Gianluca, Lombardi, Augusto, Pellegrini, Patrizia, Mattei, Mauro, De Marchis, Laura, Amanti, Claudio, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154752/
https://www.ncbi.nlm.nih.gov/pubmed/30263092
http://dx.doi.org/10.18632/oncotarget.26000

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