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Chunk #33 — Discussion

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Functional mapping and annotation of genetic associations with FUMA.
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We introduce a web application named FUMA that allows to process GWAS summary statistics, and annotate, prioritize SNPs and genes and facilitates interpretation by providing interactive visualizations. FUMA provides a single platform that is built on the most popular tools for post-GWAS annotation and includes a rich collection of data repositories to bring insights into the phenotype of interest, and annotation in FUMA typically takes only ±30 min. For every prioritized gene, FUMA provides the rationale for pinpointing this gene, such as for example when the expression of the prioritized gene is altered by a SNP that is associated with the disease of interest. Interactive regional plots (Fig. 3 and Supplementary Figs. 5–7, 10) show which genes in a genomic risk locus are prioritized and which genes are not, and the annotated SNPs in the prioritized genes facilitate the generation of hypotheses for functional validation experiments. For example, if a gene is prioritized because of an associated loss-of-function SNP, follow-up validation experiments focusing on a knock-out of this gene may provide disease relevant functional information. On the other hand, if