SigMA detects mutational signatures in targeted gene panels, recovering signature activity from the low mutation counts of clinical-grade sequencing assays where conventional methods fall short.
R -e 'devtools::install_github("parklab/SigMA")'Detecting the mutational signature of homologous recombination deficiency in clinical samples
Gulhan DC, Lee JJ, Melloni GEM, Cortés-Ciriano I, Park PJ (2019)
Nat Genet. 2019 May;51(5):912-919. Epub 2019 Apr 15.
doi: 10.1038/s41588-019-0390-2