AI Article Synopsis

  • Double-strand breaks (DSBs) are harmful DNA damage events that can cause genome instability, prompting cells to use repair methods like non-homologous end joining (NHEJ), microhomology mediated end joining (MMEJ), and homology-directed recombination (HDR).
  • These repair processes can introduce DNA sequence variations, such as insertions and deletions, at the break site, necessitating accurate analysis through high throughput sequencing.
  • The study introduces a method for visualizing the complex patterns of sequence variations around DSBs, facilitating better comparison across different experimental conditions.

Article Abstract

Double-strand breaks (DSBs) in DNA are naturally occurring destructive events in all organisms that may lead to genome instability. Cells employ various repair methods known as non-homologous end joining (NHEJ), microhomology mediated end joining (MMEJ), and homology-directed recombination (HDR). These repair processes may lead to DNA sequence variations (e.g., nucleotide insertions, deletions, and substitutions) at the location of the break. Studying DNA DSB repair processes often involves the use of high throughput sequencing assays to precisely quantify the sequence variations near the break with software tools. Often methods of assessing and visualizing these data have not taken into account the full complexity of the sequencing data, such as the frequency, type, and position of the sequence variations in a single comprehensive representation. Here we present a method that allows visualization of the overall variation pattern as well as comparison of these patterns among experimental setups.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10793479PMC

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