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Chunk #29 — Results — Application to schizophrenia GWAS

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Functional mapping and annotation of genetic associations with FUMA.
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We also applied FUMA to the most recent Schizophrenia (SCZ; 36,989 cases and 113,075 controls) GWAS summary statistics3, and 128 lead SNPs from 269 independent significant SNPs across 109 genomic loci were identified (Supplementary Note 5, Supplementary Fig. 8 and Supplementary Data 14–17). Positional mapping of deleterious coding SNPs and eQTL mapping prioritized 84 unique genes of which 36 genes were implicated by deleterious coding SNPs and 65 were implicated by eQTLs influencing expression of these genes (six genes had both deleterious coding SNPs and eQTLs; Supplementary Data 18). The prioritized 84 genes include 65 genes which were previously reported as candidates in the original study3, while 19 genes were novel (Table 2) including 11 genes which are physically located outside the GWAS risk loci. These 19 novel candidates have several shared biological functions with 65 previously known genes, such as “matrisome” and “neuronal system” (Supplementary Data 19). Out of 84 prioritized genes, 60 of them were also identified by the recent TWAS50 and Hi-C51 studies including 10 genes which are physically located outside the risk loci. The prioritized genes