biorxiv.org

A Foundation Model for the Cancer Genome (opens in new tab)

Cancer is a disease of the genome, in which somatic mutations and copy-number alterations determine tumour identity, clinical behaviour, and response to therapy. Consortium-scale sequencing has profiled hundreds of thousands of tumours, yet clinical interpretation still proceeds one alteration at a time against hand-curated knowledgebases, often ignoring co-occurring alterations and the genome-wide copy-number pattern. Self-supervised foundation models pretrained on unlabelled corpora have pr...

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