SvAnna:

Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing.

SvAnna performs phenotype-driven prioritization of structural variants in VCF files, focusing specifically on long-read WGS analysis of germline variants.

Contents:

• Quickstart
  • Prerequisites
  • Setup
  • Prioritize structural variants in VCF file
• Setting up SvAnna
  • Installation
• Run SvAnna
  • Prioritization of structural variants
• Output formats
  • HTML output format
  • VCF output format
  • CSV/TSV output format
• Examples
  • Single exon deletion
  • Deletion of multiple exons
  • Deletion of multiple genes
  • Duplication of coding sequence
  • Multigene inversion
  • Deletion affecting transcription start site
  • Deletion affecting promoter region
  • Translocation disrupting a gene sequence