Refinement (WP5)

This WP is concerned with refining signals emerging from WP1, the main objective being to characterize the variants most likely to be causal for the signals concerned. As a result of LD and allelic heterogeneity, the variants which produce the strongest signals on the GWA may not necessarily be those which are causal.
In this WP, the aim will be

1. To identify higher risk, lower frequency variants associated with the phenotype;
2. To identify new risk variants within the same gene or LD blocks (independent of the original signal);
3. To localise (wherever possible) the actual sequence variant predisposing to disease.

As a result of WP5, we expect to have in hand either the aetiological variant (or variants) themselves, or highly-correlated proxies for them.