somatic-variants topic
SigProfilerExtractor
SigProfilerExtractor allows de novo extraction of mutational signatures from data generated in a matrix format. The tool identifies the number of operative mutational signatures, their activities in e...
octopus
Bayesian haplotype-based mutation calling
sigminer
🌲 An easy-to-use and scalable toolkit for genomic alteration signature (a.k.a. mutational signature) analysis and visualization in R https://shixiangwang.github.io/sigminer/reference/index.html
somaticseq
An ensemble approach to accurately detect somatic mutations using SomaticSeq
neusomatic
NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection
SigProfilerMatrixGenerator
SigProfilerMatrixGenerator creates mutational matrices for all types of somatic mutations. It allows downsizing the generated mutations only to parts for the genome (e.g., exome or a custom BED file)....
TCGAmutations
R data package for pre-compiled somatic mutations from TCGA cohorts (from Broad Firehose and TCGA MC3 Project)
helmsman
highly-efficient & lightweight mutation signature matrix aggregation
2020plus
Classifies genes as an oncogene, tumor suppressor gene, or as a non-driver gene by using Random Forests
SigProfilerMatrixGeneratorR
R wrapper for utilizing the SigProfilerMatrixGenerator framework