The Interpreting the effects of genetic variants on protein structure and function: EMBL-EBI resources in practice short course, ran in May 2024. Here, we have made the course materials available for you to access any time.

---

Using these materials

These course materials provide a mixture of presentations and practicals to help advance your skills in Interpreting the effects of genetic variants on protein structure and function. You may select your topic of interest from the Course content page to view the relevant materials or work your way through all the course materials. 

To find out more about the trainers who created these materials, follow the links from the Course content page or go directly to the Trainer biographies page. 

In the Further learning section you may explore the details about the EMBL-EBI’s free access online tutorials and webinars on a variety of life sciences topics.

If you would like to provide feedback on this set of course materials, please use the form on the Your feedback page.

---

Learning outcomes

After the course you should be able to:

• Describe the main functionality and options available for the Ensembl Variant Effect Predictor (VEP)
• Annotate a variation dataset using the web-based VEP tool
• Interpret the output of the VEP and navigate to other EMBL-EBI resources to further assess variant effects on proteins
• Access variant information in UniProt
• Identify and evaluate experimental and predicted structures representing protein variants using PDBe-KB and AlphaFoldDB (AFDB)
• Interpret the functional implications of variant-induced changes in protein structure

Material collection editors

• Louisse Paola Mirabueno, EMBL-EBI
• Aleena Mushtaq, EMBL-EBI
• Anna Swan, EMBL-EBI
• Meredith Willmott, EMBL-EBI

DOI: 10.6019/TOL.InterpretingVariants-t.2023.00001.1