Mutational Signatures: From Methods to Mechanisms

Yoo Ah Kim, Mark D.M. Leiserson, Priya Moorjani, Roded Sharan, Damian Wojtowicz, Teresa M. Przytycka

Research output: Contribution to journalReview articlepeer-review


Mutations are the driving force of evolution, yet they underlie many diseases, in particular, cancer. They are thought to arise from a combination of stochastic errors in DNA processing, naturally occurring DNA damage (e.g., the spontaneous deamination of methylated CpG sites), replication errors, and dysregulation of DNA repair mechanisms. High-throughput sequencing has made it possible to generate large datasets to study mutational processes in health and disease. Since the emergence of the first mutational process studies in 2012, this field is gaining increasing attention and has already accumulated a host of computational approaches and biomedical applications.

Original languageEnglish
Pages (from-to)189-206
Number of pages18
JournalAnnual review of biomedical data science
StatePublished - 11 May 2021


  • cancer
  • cancer evolution
  • computational models
  • mutagenic processes
  • mutational signatures
  • population genetics


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