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

Scientific reports - 27 Jun 2023

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

Abstract excerpt

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 when using large targeted sequencing panels covering many tumor suppressor genes. To address this, we built a machine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37369746
DOI: 10.1038/s41598-023-37409-1
PMCID: PMC10300101

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