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Inferring ongoing cancer evolution from single tumour biopsies using synthetic supervised learning.


ABSTRACT: Variant allele frequencies (VAF) encode ongoing evolution and subclonal selection in growing tumours. However, existing methods that utilize VAF information for cancer evolutionary inference are compressive, slow, or incorrectly specify the underlying cancer evolutionary dynamics. Here, we provide a proof-of-principle synthetic supervised learning method, TumE, that integrates simulated models of cancer evolution with Bayesian neural networks, to infer ongoing selection in bulk-sequenced single tumour biopsies. Analyses in synthetic and patient tumours show that TumE significantly improves both accuracy and inference time per sample when detecting positive selection, deconvoluting selected subclonal populations, and estimating subclone frequency. Importantly, we show how transfer learning

SUBMITTER: Ouellette TW 

PROVIDER: S-EPMC9049314 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature