- 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
Case study 4: Starting with the literature
Sometimes you might start with a specific publication. Perhaps you want to access the data that is described so that you can include it in your own analyses.
In this case study we are going to use the Nature paper from the Wellcome Trust Case Control Consortium (WTCCC) as the starting point and investigate how we can access and analyse the data. The WTCCC is a consortium that was put together to help understand human variation using high-throughput technology.
You can find the paper in Europe PMC by searching for keywords (e.g. author names, phenotypes of interest, etc.) or known literature identifiers (e.g PMID:17554300) (Figure 16). Searching for the paper in Europe PMC is a useful way to get started as the search results include direct links to information about the genes, proteins, variants etc. that are mentioned in the paper.
To learn more about Europe PMC watch our webinar Using Europe PMC for effective literature research..