Showcase of applications that use phenopacket-tools

We present a list of tools and applications that use phenopacket-tools to read, build, or Q/C phenopackets.

We present a list of tools and applications that use phenopacket-tools to read, build, or Q/C phenopackets and other components of the Phenopacket Schema.

• LIRICAL runs phenotype-driven prioritization of Mendelian diseases on a Phenopacket.

  LIRICAL uses phenopacket-tools-io to read phenopackets.

• SvAnna applies phenotype-driven prioritization on coding and regulatory structural variants in long-read genome sequencing.

  SvAnna uses phenopacket-tools-io for reading input formatted as a phenopacket.

• HPO Case Annotator is a GUI application for biocuration of case reports, cohorts and families.

  Hpo Case Annotator uses phenopacket-tools-builder for mapping the entered data into Phenopacket Schema format and phenopacket-tools-io for storing phenopackets into JSON files.

Please let us know about your application by submitting a request on our issue tracker.