Genome-Wide Association Studies (GWAS) represent a hypothesis-free statistical framework within genomics that identifies associations between single nucleotide polymorphisms (SNPs) and phenotypic traits via linkage disequilibrium rather than direct causation. The methodology relies on the Common Disease–Common Variant hypothesis, utilizing large-scale case-control comparisons to detect common alleles with moderate effects while correcting for confounding variables such as population stratification and environmental interactions. Consequently, GWAS provides a statistical indicator of genetic contribution to phenotype but frequently underestimates total heritability due to missing rare variants, polygenic architectures, and incomplete linkage disequilibrium coverage known as the "missing heritability" problem.
Genome-Wide Association Studies (GWAS) represent a hypothesis-free statistical framework within genomics that identifies associations between single nucleotide polymorphisms (SNPs) and phenotypic tra…