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. Author manuscript; available in PMC: 2016 Jun 21.
Published in final edited form as: Nat Genet. 2015 Dec 21;48(2):134–143. doi: 10.1038/ng.3448

Figure 2. Genes with top priority based on biological and statistical evidence combined.

Figure 2

We queried 368 genes in the 34 narrow AMD regions (index and proxies, r2 ≥0.5, ±100kb) for biological (red; expression in retina/RPE/choroid, Supplementary File 6; ocular mouse phenotype, Supplementary File 7), statistical, (blue; ≥1 credible set variant in gene ±50 kb, Supplementary File 3; rare variant burden, Table 2), putative functional (green; ≥ 1 credible set variant in gene ±50 kb being protein-altering, 5′/3′ UTR, other exonic, or putative promoter, Supplementary File 3), and molecular (magenta; enriched molecular pathway, drug target) evidence. We here focus on the gene(s) with the highest gene priority score (GPS) per locus (full list of genes in Supplementary File 9). Shown are (a) the 16 genes with highest GPS in the 15 novel AMD loci (one novel locus without any gene), and (b) the 25 genes with highest GPS in the 18 known AMD loci. Colored fields indicate yes and GPS counts number of colored fields per row.