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Chunk #54 — Methods — FUMA parameters for application to GWAS summary statistics

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Functional mapping and annotation of genetic associations with FUMA.
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In the described applications, three mapping strategies were applied to GWAS summary statistics with the following settings: positional mapping was performed by selecting exonic and splicing SNPs with CADD score ≥ 12.37 (defined by Kircher et al.13) to restrict the mapping to deleterious coding SNPs. eQTL mapping was performed using GTEx eQTLs with FDR<0.05. Chromatin interaction mapping was performed using Hi-C data from Schmitt et al.11 and interactions were filtered by FDR<1e-6. Tissue types used for eQTLs and chromatin interaction mappings are described in the following section for each of three phenotypes. Other parameters not mentioned here were kept as default (Supplementary Table 2).