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HPO Workshop

Welcome to the Human Phenotype Ontology (HPO) Workshop.

This site provides hands-on material to help you learn how to use the
Human Phenotype Ontology (HPO)
in bioinformatics and clinical workflows.

The content is designed for guided workshops but can also be used independently for self-study.

What you will learn

  • Phenotype Annotation
    Learn how to describe patient phenotypes using structured HPO terms.

  • Phenopackets
    Create and explore interoperable phenotype datasets.

  • Exomiser Analysis
    Run phenotype-driven variant prioritisation workflows.

  • Best Practices
    Apply HPO effectively in research and clinical environments.

Workshop structure

Each topic in the navigation menu contains:

  • 📖 Background explanations
  • 🧩 Practical exercises
  • 💡 Hint and answer pages

You can follow the workshop sequentially or jump directly to a specific topic.

Preparing for the workshop

This workshop combines short lectures with practical exercises. It is intended for bioinformaticians, clinicians, and translational researchers working with the HPO or related software.

If you would like to prepare in advance:

There will be many activities in the workshop. Optionally, users can run Exomiser on their own laptops. If you would like to do this, please

The data files are roughly 20 GB, so please download them before the workshop if you plan to run Exomiser locally.

Get started

👉 Introduction