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A survey of algorithms for the detection of genomic structural variants from long-read sequencing data.

Mian Umair AhsanQian LiuJonathan Elliot PerdomoLi FangKai Wang
Published in: Nature methods (2023)
As long-read sequencing technologies are becoming increasingly popular, a number of methods have been developed for the discovery and analysis of structural variants (SVs) from long reads. Long reads enable detection of SVs that could not be previously detected from short-read sequencing, but computational methods must adapt to the unique challenges and opportunities presented by long-read sequencing. Here, we summarize over 50 long-read-based methods for SV detection, genotyping and visualization, and discuss how new telomere-to-telomere genome assemblies and pangenome efforts can improve the accuracy and drive the development of SV callers in the future.
Keyphrases
  • single molecule
  • single cell
  • copy number
  • machine learning
  • loop mediated isothermal amplification
  • genome wide
  • small molecule
  • real time pcr
  • gene expression
  • dna methylation
  • current status