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InvertypeR: Bayesian inversion genotyping with Strand-seq data.

Vincent C T HanlonCarl-Adam MattssonDiana Carolina Johanna SpieringsVictor GuryevPeter M Lansdorp
Published in: BMC genomics (2021)
InvertypeR discovers, genotypes, and phases inversions without relying on manual inspection. For greater accessibility, results are presented as phased chromosome ideograms with inversions linked to Strand-seq data in the genome browser. InvertypeR increases the power of Strand-seq for studies on the role of inversions in phenotypic variation, genome instability, and human disease.
Keyphrases
  • genome wide
  • dna methylation
  • copy number
  • rna seq
  • single cell
  • electronic health record
  • endothelial cells
  • big data
  • high throughput
  • machine learning
  • induced pluripotent stem cells
  • magnetic resonance
  • contrast enhanced