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NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.

Michael D LindermanCrystal PaudyalMusab ShakeelWilliam KelleyAli BashirBruce D Gelb
Published in: GigaScience (2022)
Growing SV databases and the increasing availability of SV calls from long-read sequencing make stand-alone genotyping of previously identified SVs an increasingly important component of genome analyses. By treating potential biases as a "black box" that can be simulated, NPSV provides a framework for accurately genotyping a broad range of SVs in both targeted and genome-scale applications.
Keyphrases
  • genome wide
  • high throughput
  • copy number
  • dna methylation
  • big data
  • single cell
  • transcription factor
  • electronic health record
  • cancer therapy
  • single molecule
  • binding protein
  • artificial intelligence
  • climate change