Validating, augmenting and refining genome-wide association signals

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Abstract
Genome-wide association studies have yielded a large number of association signals with robust statistical support, but these are only markers of the true functional variants. Reliable identification of the true functional variants can be notoriously difficult, but a series of methods could be helpful in this regard. Large-scale exact replication to achieve robust statistical credibility of a marker should precede efforts at finding the causative variants. Fine mapping and resequencing might help to identify more informative markers and multiple independent informative loci. Functional information could fine tune the credibility of different variants for being the causative variant. Additional insights might be obtained by more extensive phenotype mapping of proposed variants.