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Chunk #6 — Introduction

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Integrating functional data to prioritize causal variants in statistical fine-mapping studies.
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from a large-scale meta-analysis study of blood lipid phenotypes (triglycerides (TG), total cholesterol (TC), high density lipoprotein (HDL), low density lipoprotein (LDL) [33])and find that causal variants at risk loci are preferentially enriched within coding regions and significantly depleted from repressed regions. In real data, PAINTOR is able to reduce the size of the 90% confidence set from an average 17.5 to 13.5 SNPs per locus, a reduction consistent to simulation results. We provide software implementing our framework freely available to the research community at http://bogdan.bioinformatics.ucla.edu/software/paintor/.