Accessing data via the variant browser

The variant browser can be used to retrieve and download individual or sets of variant data. We normalise and accession all variant data in order to ensure they are uniquely identifiable and annotate them with Ensembl’s Variant Effect Predictor (EnsemblVEP) to calculate allele frequencies for the whole study or for each subpopulation if they are provided in the initial submission. This allows us to provide context in which the variants exist. It is this data that can be accessed via the variant browser, with an option to download any queried variants.

Explore EVA’s variant browser by clicking on the below (Figure 3):

Figure 3 EVA’s variant browser.