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Chunk #25 — Discussion

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Integrating functional data to prioritize causal variants in statistical fine-mapping studies.
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Recent efforts by large consortia such the ENCODE have provided a genomic map of regulatory regions and have shown that GWAS associated variants are preferentially enriched within these regions. In this work, we propose a principled approach to unifying these genomic features with the standard association signal to improve the localization accuracy in fine-mapping studies. Our method relies on empirical data to select trait-specific genomic annotations, thus removing the need for ad-hoc selection of relevant functional annotations a priori. Through simulated and real data results, we have shown that our integrative framework is able to reduce the number of variants that need to be investigated to identify causal variants that alter risk of disease.