Leveraging Whole-Exome Sequencing and Mutational Signatures to Detect Homologous Recombination Deficiency in Cancer.

Abstract excerpt

Homologous recombination is a high-fidelity DNA repair mechanism essential for maintaining genome stability. Impairment of this pathway, often due to BRCA1 or BRCA2 inactivation, leads to homologous recombination deficiency (HRD), forcing cells to rely on error-prone mechanisms for repairing DNA double-strand breaks, such as nonhomologous or microhomology-mediated end joining. HRD is a clinically important...

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• Exome Sequencing
• BRCA1 gene
• BRCA2 gene
• Homologous Recombination
• Machine Learning