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Fig. 3 | BMC Medical Genomics

Fig. 3

From: The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

Fig. 3

Functional validation remains the bottleneck of GWAS follow-up. A Comparison of the number of published studies in the GWAS catalog and non-coding variant validation studies over time. B Relationship between the ratio of validated non-coding variants to the total GWAS variants and disease category mean heritability. C Linkage disequilibrium between reported variant in GWAS Catalog and validated variants. D Distance between validated variant and GWAS Catalog-reported variant. E Global minor allele frequency (MAF) of validated variants in 1000 genomes phase 3. F Location of experimentally validated non-coding GWAS variants in relation to all protein-coding genes compared to GWAS lead variants

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BMC Medical Genomics

ISSN: 1755-8794

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