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Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing.

Yekai ZhouAmy Wing-Sze LeungSyed Shakeel AhmedTak-Wah LamRuibang Luo
Published in: BMC bioinformatics (2022)
Duet can perform accurate SV calling, SV genotyping and SV phasing using low-coverage ONT data, making it very useful for low-coverage genomes. It has great performance when scaled to high-coverage genomes, which is adaptable to various clinical applications. Duet is open source and is available at https://github.com/yekaizhou/duet .
Keyphrases
  • affordable care act
  • genome wide
  • single cell
  • single molecule
  • high throughput
  • high resolution
  • genetic diversity
  • gene expression
  • mass spectrometry
  • deep learning
  • solid state