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Fig. 6 | Genome Biology

Fig. 6

From: PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

Fig. 6

a, b PINES predicts novel noncoding pathogenic variants through epigenetic prioritization of variants in Parkinson’s disease and IBD GWAS loci. Loci were extracted from [38] and [34]. For each lead SNP, all variants with LD≥0.4 were selected, and loci were discarded if this list overlapped any coding regions or 3 ′ or 5 ′ UTRs of coding genes. All variants in LD to the lead SNP were scored via weighted PINES. The GWAS lead SNP is marked blue, and the variant predicted as likely causal through PINES prioritization is marked red. For the rs4845604 locus, the GWAS and PINES lead SNP overlaps

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