Method and system for detecting mutational signatures and their exposures

Abstract

A method of detecting mutational signatures of a sample and their exposures in a collection of samples, each being characterized by nucleic acid sequencing information describing at least one mutation, comprises: clustering the samples to provide clusters and respective exposure vectors, where each exposure vector describes prior probabilities for a plurality of signatures to emit a mutation. An optimization procedure is applied to dynamically re-cluster the samples and to dynamically update the signatures and exposure vectors. Optionally, the mutational signatures in the sample are determined using an exposure vector of one or more clusters associated with the sample.

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