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Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies

Figure 1

Illustration of model input.

PAINTOR is a statistical model for incorporating functional annotations on top of association statistics to ascribe probabilistic confidence of causality to the SNPs at the loci. Depicted here are two loci with functional annotations from three different cell lines/tissues and three different classes. Causal variants are enriched within the green annotation class while depleted from others. PAINTOR is designed to upweight (with probability mass) SNPs residing in the green annotation while down-weighting SNPs residing in the red annotation.

Figure 1

doi: https://doi.org/10.1371/journal.pgen.1004722.g001