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Machine learning-based somatic variant calling in cell-free DNA of metastatic breast cancer patients using large NGS panels

Next generation sequencing of cell-free DNA (cfDNA) is a promising method for treatment monitoring and therapy selection in metastatic breast cancer (MBC). However, distinguishing tumor-specific variants from sequencing artefacts and germline variation with low false discovery rate is challenging wh...

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Detalles Bibliográficos
Autores principales: Jongbloed, Elisabeth M., Jansen, Maurice P. H. M., de Weerd, Vanja, Helmijr, Jean A., Beaufort, Corine M., Reinders, Marcel J. T., van Marion, Ronald, van IJcken, Wilfred F. J., Sonke, Gabe S., Konings, Inge R., Jager, Agnes, Martens, John W. M., Wilting, Saskia M., Makrodimitris, Stavros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300101/
https://www.ncbi.nlm.nih.gov/pubmed/37369746
http://dx.doi.org/10.1038/s41598-023-37409-1