Emerging Technologies for Genome-Wide Profiling of DNA Breakage

Matthew J. Rybin, Melina Ramic, Natalie R. Ricciardi, Philipp Kapranov, Claes Wahlestedt, Zane Zeier

Research output: Contribution to journalReview articlepeer-review


Genome instability is associated with myriad human diseases and is a well-known feature of both cancer and neurodegenerative disease. Until recently, the ability to assess DNA damage—the principal driver of genome instability—was limited to relatively imprecise methods or restricted to studying predefined genomic regions. Recently, new techniques for detecting DNA double strand breaks (DSBs) and single strand breaks (SSBs) with next-generation sequencing on a genome-wide scale with single nucleotide resolution have emerged. With these new tools, efforts are underway to define the “breakome” in normal aging and disease. Here, we compare the relative strengths and weaknesses of these technologies and their potential application to studying neurodegenerative diseases.

Original languageEnglish (US)
Article number610386
JournalFrontiers in Genetics
StatePublished - Jan 27 2021
Externally publishedYes


  • DNA damage
  • aging
  • double strand break (DSB)
  • genome instability
  • neurodegeneration
  • neurodegenerative disease
  • single strand break (SSB)

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)


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