Genome-Wide Association Studies

Genome-Wide Association Studies (GWAS) investigate genetic variations across the entire genome to identify links between specific DNA markers and complex traits or diseases. By analyzing large populations and comparing genetic profiles of affected and unaffected individuals, GWAS helps pinpoint single nucleotide polymorphisms (SNPs) associated with conditions such as diabetes, cardiovascular disease, autoimmune disorders, psychiatric illnesses, and cancer. This approach has revolutionized human genetics by uncovering thousands of risk loci that contribute to disease susceptibility, drug response, and biological pathways. GWAS also provides insights into gene–environment interactions and helps build polygenic risk scores that improve early prediction and preventive healthcare. With advances in sequencing technologies, biobanks, and computational tools, GWAS continues to expand its impact on precision medicine. Its findings contribute to the development of targeted therapies, personalized diagnostics, and deeper understanding of complex, multifactorial diseases.

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