somatic-variants topic

List somatic-variants repositories

SigProfilerExtractor

146
Stars
51
Forks
Watchers

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

298
Stars
37
Forks
Watchers

Bayesian haplotype-based mutation calling

sigminer

136
Stars
18
Forks
Watchers

🌲 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

189
Stars
53
Forks
Watchers

An ensemble approach to accurately detect somatic mutations using SomaticSeq

neusomatic

167
Stars
50
Forks
Watchers

NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

SigProfilerMatrixGenerator

95
Stars
32
Forks
Watchers

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

76
Stars
23
Forks
Watchers

R data package for pre-compiled somatic mutations from TCGA cohorts (from Broad Firehose and TCGA MC3 Project)

helmsman

19
Stars
5
Forks
Watchers

highly-efficient & lightweight mutation signature matrix aggregation

2020plus

48
Stars
17
Forks
Watchers

Classifies genes as an oncogene, tumor suppressor gene, or as a non-driver gene by using Random Forests

SigProfilerMatrixGeneratorR

20
Stars
4
Forks
Watchers

R wrapper for utilizing the SigProfilerMatrixGenerator framework