A practical guide for mutational signature analysis in hematological malignancies | Nature Communications

Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation of accurate and reproducible signature data.

Download PDF Subjects Cancer genomics Genomics Haematological cancer Leukaemia Myeloma An Author Correction to this article was published on 25 July 2019 This article has been updated Abstract Analysis of mutational signatures is becoming routine in cancer genomics, with implications for pathogenesis, classification, prognosis, and even treatment decisions. However, the field lacks a consensus on analysis and result interpretation. Using whole-genome sequencing of multiple myeloma (MM), chronic lymphocytic leukemia (CLL) and acute myeloid leukemia, we compare the performance of public signatur

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