https://github.com/alexandrovlab/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 each sample, and the probability for each signature to cause a specific mutation type in a cancer sample. The tool makes use of SigProfilerMatrixGenerator and SigProfilerPlotting.
bioinformatics cancer-genomics mutation-analysis mutational-signatures somatic-variants
Added: over 1 year ago - Last Synced: 11 months ago - Created: August 30, 2018

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  • Owner: AlexandrovLab
  • Stars: 146
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  • Downloads: 2,009
https://github.com/shixiangwang/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
bayesian-nmf bioinformatics cancer-research cnv copynumber-signatures cosmic-signatures dbs easy-to-use indel mutational-signatures nmf nmf-extraction r sbs signature-extraction somatic-mutations somatic-variants visualization
Added: over 1 year ago - Last Synced: 11 months ago - Created: December 30, 2018

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  • Owner: ShixiangWang
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https://github.com/hku-bal/clairs-to

ClairS-TO - a deep-learning method for tumor-only somatic variant calling
bioinformatics deep-learning genomics illumina long-read-sequencing long-reads nanopore ont pacbio snvs somatic-mutations somatic-variants tumor-only tumors variant-calling variants
Added: over 1 year ago - Last Synced: 11 months ago - Created: November 07, 2023

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  • Owner: HKU-BAL
  • Stars: 32
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