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SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events.

Erik N BergstromMi Ni HuangUma MahtoMark BarnesMichael R StrattonSteven G RozenLudmil B Alexandrov
Published in: BMC genomics (2019)
SigProfilerMatrixGenerator provides a standardized method for classifying small mutational events that is both efficient and scalable to large datasets. In addition to extending the classification of single base substitutions, the tool is the first to provide support for classifying doublet base substitutions and small insertions and deletions. SigProfilerMatrixGenerator is freely available at https://github.com/AlexandrovLab/SigProfilerMatrixGenerator with an extensive documentation at https://osf.io/s93d5/wiki/home/ .
Keyphrases
  • machine learning
  • deep learning
  • rna seq
  • single cell
  • advance care planning