Repeat expansion annotation from VCF file

VarSome Clinical can annotate short tandem repeats (STR) VCF files. The VCFs uploaded to annotate STRs must meet the following requirements:

  1. Are compliant with the VCF standard.
  2. The number of repeats is shown in the ALT field as < STRn > where n is the number of repeats.
  3. The INFO field contains the repeat unit in the following format: DisplayRU=CCG
  4. The FORMAT field contains the number of repeats spanned by each allele. 

The STR analysis from VCF is launched as a sub-analysis of the main analysis. You can launch a STR annotation by:

  • Adding an STR VCF file when defining your sample.

  • Launching the analysis once the main analysis has finished as a “New Repeat Expansion sub-analysis” either from single or multi sample analyses.