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Chunk #10 — Results — Functional annotation data improves statistical fine mapping performance

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Integrating functional data to prioritize causal variants in statistical fine-mapping studies.
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We find that prioritizing variants using PAINTOR posterior probabilities achieves superior accuracy over existing methodologies (see Figure 2 and Table 1). Our approach identifies more causal variants at all selection thresholds, and is a consequence of PAINTOR's ability to model multiple causal variants while incorporating functional priors. For example, in order to find (50%, 90%) of all causal variants one needs to select an average of (1.3, 10.4) SNPs per locus if using PAINTOR. In contrast, ranking SNPs using frameworks that assume a single causal variant, such as Maller et al. [5] and fgwas [10], require (2.7, 25.4) and (2.0, 21.5) SNPs per locus, respectively. In general, we observe an increase in performance for methods that incorporate functional data and allow for multiple causal variants at a risk locus (see Tables 1 and 2). Despite having access to individual level data, variable selection strategies [13], [14] were less accurate than PAINTOR in our simulations (see Figure 2 and Table 1). Ranking SNPs based on correlation-adjusted t-scores [12] was superior to existing methodologies, however, still failed to achieve the same level