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Chunk #8 — Results — Overview of statistical fine-mapping with functional annotation

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Integrating functional data to prioritize causal variants in statistical fine-mapping studies.
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using a variant of the Expectation Maximization algorithm to infer the parameters of the model, followed by estimation of the probabilities for each variant to be causal (see Methods). Intuitively, PAINTOR up-weights variants residing in certain functional annotations (e.g. transcription start sites) while down-weighting variants within annotations less relevant to the trait (e.g. intergenic). The weight associated to each functional annotation is inferred from the data itself without making any ad-hoc assumptions on which tissue-specific annotations are relevant to the trait of interest. The main output of PAINTOR is a probability for each variant to be causal that can be used for selection of SNPs to be tested for biological causality in functional assays.