Twenty years of genome-wide association studies: Health translation challenges and AI opportunities

Abstract excerpt

A landmark genome-wide association study (GWAS) in 2005 led to a major discovery about the genetics of age-related macular degeneration. Since then, thousands of GWAS have been published and tens of thousands of genomic loci have been reported for association with human traits ranging from established ones (e.g. height, cardiovascular disease) to unconventional ones (e.g. same-sex sexual behavior, family income)....

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