Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma

Tumour DNA sequencing is essential for precision medicine since it guides therapeutic decisions but also fosters the identification of patients who may benefit from germline testing. Notwithstanding, the tumour-to-germline testing workflow presents a few caveats. The low sensitivity for indels at lo...

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Detalles Bibliográficos
Autores principales: Azzollini, Jacopo, Agnelli, Luca, Conca, Elena, Torelli, Tommaso, Busico, Adele, Capone, Iolanda, Angelini, Marta, Tamborini, Elena, Perrone, Federica, Vingiani, Andrea, Lorenzini, Daniele, Peissel, Bernard, Pruneri, Giancarlo, Manoukian, Siranoush
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182972/
https://www.ncbi.nlm.nih.gov/pubmed/37179432
http://dx.doi.org/10.1038/s41598-023-33857-x

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