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Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing

BACKGROUND: Tumor-only sequencing, implemented for the identification of somatic variants, is oftentimes used for the detection of actionable germline variants. We sought to determine whether tumor-only sequencing assays are suitable for detection of actionable germline variants, given their importa...

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Detalles Bibliográficos
Autores principales: Terraf, P., Pareja, F., Brown, D. N., Ceyhan-Birsoy, O., Misyura, M., Rana, S., O’Reilly, E., Carlo, M. I., Aghajanian, C., Liu, Y., Derakhshan, F., Jayakumaran, G., Weigelt, B., Walsh, M., Stadler, Z., Offit, K., Ladanyi, M., Robson, M., Zehir, A., Reis-Filho, J. S., Mandelker, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172914/
https://www.ncbi.nlm.nih.gov/pubmed/35074424
http://dx.doi.org/10.1016/j.annonc.2022.01.006