Figure 1.
Representative results from (a) a genome-wide association study (GWAS) and (b) a phenome-wide association study (PheWAS). (a) Illustration of the phenotype-to-genotype strategy used by GWAS along with a representative GWAS depicted in the Manhattan plot graphing –log10(P-values) across the genome. (b) Illustration of the genotype-to-phenotype strategy used by PheWAS including a representative PheWAS for single nucleotide polymorphism (SNP) rs1061170, a SNP known to be associated with age-related macular degeneration (AMD).5 The AMD ICD9 codes are highlighted on the PheWAS Manhattan plot.