A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data

摘要

BackgroundThe landscape of cancer-predisposing genes has been extensively investigated in the last 30 years with various methodologies ranging from candidate gene to genome-wide association studies. However, sequencing data are still poorly exploited in cancer predisposition studies due to the lack of statistical power when comparing millions of variants at once.