- Course overview
- Search within this course
- Introduction to public genetic variation data
- Case study 1: variants in a gene (PKD1)
- Cast study 2: Search for a variant (rs334)
- Case study 3: Search for a phenotype (non-melanoma skin cancer)
- Case study 4: Starting with the literature
- Your feedback
In parts I and II of this course we have introduced some key topics in the field of human genetic variation. In this part of the course we’ve learnt about some of the public resources available for exploring genetic variation data. In the case studies we used these resources to answer specific biological questions and showed you how you can use genes, variants, phenotypes or the literature as a starting point in your research.
Perhaps you would like to try searching for your favourite gene or variant using the resources featured in this course. You can use the case studies as a guide to help find your way through the different resources.
Many of the resources mentioned in this course (for example Ensembl, EVA, UniProt, GWAS Catalog and PDBe) are developed and maintained by the EMBL-EBI. If you would like to learn more about these resources please have a look at our free online courses in Train online.
As a starting point we recommend:
- Ensembl browser webinar series
- Using Europe PMC for effective literature research
- European Variation Archive at EMBL-EBI: webinar
- Introducing the new UniProt Disease Portal
- PDBe-KB Aggregated Views: Presenting PDB data in a different context
- Investigating genotype-phenotype data using the GWAS Catalog
Where to find help
In addition to our Train online courses, every EMBL-EBI resource provides detailed help and documentation pages on their website. You can also contact their help desk to ask a specific question.
Alternatively, you can get in touch via our website using this form. Be sure to include your email address and pick the most appropriate topic so that we can direct your question to the people best able to answer it.