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Determining mutational burden and signature using RNA-seq from tumor-only samples.

Erik JessenYuanhang LiuJaime DavilaJean-Pierre KocherChen Wang
Published in: BMC medical genomics (2021)
Taken together, our work provides a novel method to detect RNA-seq derived mutational signatures with effective procedures to remove likely germline variants. It can leads to accurate classification of underlying driving mechanisms of DNA damage deficiency.
Keyphrases
  • rna seq
  • dna damage
  • single cell
  • dna repair
  • machine learning
  • deep learning
  • oxidative stress
  • copy number
  • genome wide
  • high resolution
  • risk factors
  • replacement therapy
  • dna methylation