Fig. 1: Study design of the meta-analysis of genome-wide association studies (meta-GWAS) on rare variants in eczema. | Nature Communications

Fig. 1: Study design of the meta-analysis of genome-wide association studies (meta-GWAS) on rare variants in eczema.

From: Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Fig. 1

Workflow of the meta-GWAS on rare variants in eczema is shown. Analyzing only rare/low-frequency variants, 11 loci were detected. In the complete data set, 38 loci were detected of which 6 were not reported to be associated with eczema or allergic disease previously. The significance threshold for the gene-level association analysis corresponds to 13,000 genes under study (carrying at least two variants with MAF < 0.05 and a CADD score ≥ 12.37). SNP single nucleotide polymorphism, MAF minor allele frequency.

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