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Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies

Fig 5

Prioritizing schizophrenia GWAS signals using GenoSkyline annotations.

(a) Tissue-specific functional regions are more enriched of schizophrenia associations than generally functional regions and non-functional regions. (b) Enrichment of GTEx whole-blood eQTLs in top SNPs from PGC2011 study. (c) Enrichment of human brain quantitative trait loci in top SNPs from PGC2011 study. (d) Summary statistics at the schizophrenia-associated locus on chromosome 8q21 near MMP16 gene. The top and middle panel show p-values from PGC2011 and PGC2-14 studies, respectively. The bottom panel shows GenoSkyline annotations at this locus. (e) Locus plots for tissue-specific posterior scores. From top to bottom, the three panels show posterior scores of brain, heart, and blood tissues, respectively.

Fig 5