Tag: mutation signatures


27 November 2018 / / research
The spectrum of somatic single-nucleotide variants in cancer genomes often reflects the signatures of multiple distinct mutational processes, which can provide clinically actionable insights into cancer etiology. Existing software tools for identifying and evaluating these mutational signatures do not scale to analyze large datasets containing thousands of individuals or millions of variants. We introduce Helmsman, a program designed to perform mutation signature analysis on arbitrarily large sequencing datasets.