Figure 2.

Posterior Probability of Pathogenicity for Rare Variants in ANKRD26

Results obtained by applying our inference procedure to rare allele counts in ANKRD26 against the thrombocytopenia case/control label. Exons are represented by gray blocks starting from the 5′ UTR on the left and ending with the 3′ UTR on the right. The classes that each variant belongs to are indicated by crosses. The bar chart in the top right shows the posterior probability of each association model under each mode of inheritance conditional on an association being present at the locus. The gray bars above show the marginal posterior probabilities of pathogenicity for individual rare variants conditional on an association being present at the locus. The inference algorithm was run with 100,000 iterations instead of the usual 1,000 in order to reduce jitter due to Monte Carlo sampling error. The bar chart beneath shows the breakdown of heterozygous and homozygous carriers of the variants between case and control subjects.