Figure 3 provides an example of the information displayed on the variant page. If a user is interested in the genes that are likely to be functionally implicated by a given variant in a disease-agnostic way, the first section ‘Assigned genes’ displays the results from the Variant to Gene (V2G) pipeline, with a list of genes prioritised by their V2G score and the functional genomics evidence that supports this connection (Figure 3B). If gene expression data supports this connection, it is possible to view the effect of the variant on gene expression together with the directionality of effect and the tissue/cell type in which the effect is observed. If the user is interested in the traits/diseases associated with a given variant, then a PheWAS plot together with the directionality of effect of the alternative allele across different phenotypes is displayed (Figure 3C).
