What kind of questions can I ask of FinnGen data?
The most typical research questions focus on:
genetic drivers of different health outcomes or other endpoints that can be formed based on registry data.
GWAS analyses - comparing the allele frequencies between cases and controls (see GWAS analysis) - highlight the variants that are associated with specific endpoints.
PheWAS analyses
When a variant of interest has been identified, PheWas analyses can provide more information about the health status of people who carry this variant. PheWas analyses help inform us about other diseases that are more common among individuals carrying the variant, thus giving potentially relevant information about underlying disease mechanisms.
Alternatively, the results can hint at the variant carriers being protected against another disease, or being otherwise particularly healthy. Such variants are especially interesting from a drug development viewpoint.
Information FinnGen PheWeb provides
frequency of a specific variant in cases and controls
frequency of that variant in the general Finnish population
possible enrichment compared to other populations
Finemapping is used to identify the most likely causal variant within a disease locus, and this data is also available through the PheWeb.
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