Genetic variation between individuals results in a range of human phenotypes. Variants that fall within coding regions of genes generally have direct and effects on the proteins encoded by the genes with which they overlap. This four hour virtual workshop will provide participants with an opportunity to gain hands-on experience of using EMBL-EBI tools and resources to assess the effects of genetic variants on the structure and function of proteins in a common workflow. 

During the course, a single example will be used throughout, using different EMBL-EBI tools resources at each stage of the analysis pipeline. The example will involve running a VCF file through the Ensembl Variant Effect Predictor (VEP), then following links to UniProt, PDBe, and AlphaFoldDB for further variant information and interpreation. 

Virtual course

This course will take place on Zoom. Trainers will be available to assist, answer questions, and provide further explanations during the Zoom.