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mutation-analysis

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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 SigProfilerMatrixGen…

  • Updated Mar 7, 2026
  • Python

SigProfilerTopography allows evaluating the effect of chromatin organization, histone modifications, transcription factor binding, DNA replication, and DNA transcription on the activities of different mutational processes. SigProfilerTopography elucidates the unique topographical characteristics of mutational signatures.

  • Updated Mar 26, 2026
  • Python

Tool written in Python and Bash implemented in a Nextflow pipeline that accurately identifies mutations and assesses their frequencies, accounting for multiple nucleotide mutations occurring within a single codon. Additionally, it can annotate mutations associated to phenotypical changes in viral populations based on user-supplied datasets.

  • Updated Jan 8, 2026
  • Python

A deep learning framework for HIV-1 drug resistance prediction using context-aware fusion of sequence and mutation features, with hybrid rule–model evaluation and robustness analysis. The model demonstrates adaptive feature reliance and strong cross-drug generalization.

  • Updated Apr 8, 2026
  • Python

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