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Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator.

Azhar KhandekarRaviteja VangaraMark BarnesMarcos Díaz-GayAmmal AbbasiErik N BergstromChristopher D SteeleNischalan PillayLudmil B Alexandrov
Published in: bioRxiv : the preprint server for biology (2023)
The new version of SigProfilerMatrixGenerator provides the first standardized bioinformatics tool for optimized exploration and visualization of two previously developed classification schemas for copy number and structural variants. The tool is freely available at https://github.com/AlexandrovLab/SigProfilerMatrixGenerator with an extensive documentation at https://osf.io/s93d5/wiki/home/ .
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • machine learning
  • healthcare
  • deep learning
  • electronic health record
  • psychometric properties
  • gene expression
  • living cells