Course Content

These materials were part of the live ‘Exploring human genetic variation’ course which happened in March 2023. Please refer to the course page and programme to check details about this live event and the original programme.

We recommend reading Human genetic variation: An introduction before going through this course materials.

The content table below outlines the different sessions that were included in the course, as well as the format of the materials (slides/videos/practicals) and each session’s trainer. Either proceed through the materials using the arrows at the end of each page or pick your topic of interest from the table below to skip straight to it.

 Presentation slides –  View or download the slides

 Recorded lectures – Watch the lecture videos 

 Practicals – View or download the slides, exercises, datasets, analysis scripts and results

FormatSubjectTrainer
Where can I find human genetic variation data?
Variation data in EnsemblLouisse Mirabueno
UniProt variation and interpretation
James Stephenson
GWAS CatalogElliot Sollis

European Genome-Phenome Archive (EGA)
Dona Shaju and Silvia Bahena
European Variation Archive (EVA)Baron Koylass
How do I interpret genetic variants?
The MANE CollaborationAdam Frankish
Variation Effect Predictor (VEP)Louisse Mirabueno
DECIPHER – Mapping the Clinical GenomeJulia Foreman

Catalogue of Somatic Mutations in Cancer (COSMIC)
Leonie Hodges, Zbyslaw Sondka