FUMA: FUNCTIONAL MAPPING AND ANNOTATION OF GENETIC ASSOCIATIONS

European Neuropsychopharmacology(2019)

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摘要
A main challenge in genome-wide association studies (GWAS) is to prioritize genetic variants and identify potential causal mechanisms of human diseases. Although multiple bioinformatics resources are available for functional annotation and prioritization, a standard, integrative approach is lacking. We developed FUMA: a web-based platform to facilitate functional annotation of GWAS results, prioritization of genes and interactive visualization of annotated results by incorporating information from multiple state-of-the-art biological databases.
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关键词
genome-wide association study (GWAS),prioritization,functional annotation,visualization,expression quantitative trait loci (eQTLs),gene mapping
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