VCF Tool

Add VR Identifiers to a VCF File

This tool will create VR information models for each entry in a user-uploaded VCF file. These information models will then be run through the VR digest algorithm to create globally unique identifiers to represent each entry. The following identifiers will be inserted into the INFO field of each entry.

  • SQ - a Sequence identifier uniquely represents the reference sequence on which the variation is located.
  • VSL - a SequenceLocation identifier uniquely represents the specific location on the specific reference sequence on which the variation is located.
  • VA - an Allele identifier uniquely represents a specific variation at a specific location.
The following descriptors will also be added to the meta-information section of the file.

Upon completion, the enriched VCF will be available for download as well as a JSON file of the VR allele models created for each entry.

Upload your VCF file
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Please ensure the correct reference sequence is specified in the drop-down above before adding the identifiers.