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202549 https://hdl.handle.net/2286/R.2.N.202549 2025-08-13 Tontonoz, Matthew Pinteric, Aubrey Text A genome-wide association study, or GWAS, is a method for identifying variations in DNA that may contribute to the development of a particular trait, such as a disease. A GWAS relies on identifying statistical correlations between many, often thousands of, DNA markers and a particular trait. Scientists employ GWASs to try to identify the genetic contributions to complex traits, such as common human diseases. Complex traits are ones that scientists suspect are the result of multiple genes and environmental inputs acting together, in contrast to simple, Mendelian disorders that result primarily from the disturbance of a single gene. The genetic variants identified through a GWAS typically account for only a small proportion of the expected genetic contribution to a complex trait, which scientists refer to as the missing heritability problem. Since 2006, scientists have conducted thousands of GWASs aimed at identifying the genetic contributions to complex traits and have identified many thousands of genetic variations that correlate with those traits, although as of 2025, because of the missing heritability problem and other limitations, the concrete contributions of GWASs to medicine have so far been modest. Genome-Wide Association Study GWAS Genome Wide Association Analysis Genetic Linkage Genetic Linkage Analysis Polymorphism, Restriction Fragment Length SNPs Human Genome Project HapMap Project Haplotypes Biological Specimen Banks Genotype Genetic Risk Score Complement Factor H Gene mapping gene editing Chromosomes Terminal restriction fragment length polymorphism analysis Single nucleotide polymorphisms Biobank Phenotype Epistasis (Genetics) Risch, Neil Merikangas, Kathleen Klein, Robert Haden, Kathryn Paige Joyner, Michael J. Paneth, Nigel Manolio, Teri Genome-Wide Association Study (GWAS)