- Course overview
- Search within this course
- Introduction to public genetic variation data
- 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
- Summary
- Your feedback
- References
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Case study 1: variants in a gene (PKD1)
In this case study we will use the human gene polycystin 1, transient receptor potential channel interacting (PKD1), as a starting point for exploring genetic variation data.
First, you may want to find all open access genetic variants within PKD1. You can do this by searching for the gene symbol and filtering for coding variants in the EVA Variant browser.
Using the EVA variant browser to search for PKD1 identifies 8186 variants from 17 studies (Figure 3).
The European Variation Archive (EVA) is a repository for genetic variation data at EMBL-EBI. To learn more about the EVA you can watch our webinar Accessing variant data at the European Variation Archive.