Computational tools to detect signatures of mutational processes in DNA from tumours: A review and empirical comparison of performance.

ABSTRACT: Mutational signatures refer to patterns in the occurrence of somatic mutations that might be uniquely ascribed to particular mutational process. Tumour mutation catalogues can reveal mutational signatures but are often consistent with the mutation spectra produced by a variety of mutagens. To date, after the analysis of tens of thousands of exomes and genomes from about 40 different cancer types, tens of mutational signatures characterized by a unique probability profile across the 96 trinucleotide-based mutation types have been identified, validated and catalogued. At the same time, several concurrent methods have been developed for either the quantification of the contribution of catalogued signatures in a given cancer sequence or the identification of new signatures from a sample of can

SUBMITTER: Omichessan H 

PROVIDER: S-EPMC6741849 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature