Genome Wide Association Studies (GWAS) Analysis and Advances in Medical Research


  • Maj Gen Prof Dr Naeem Naqi CMH Lahore Medical College and Institute of Dentistry, Lahore.



Genome Wide Association Analysis, GWAS


Genome-wide association study (GWAS) is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example, blood pressure. This approach is known as phenotype first, in which the participants are classified first by their clinical manifestation(s), as opposed to genotype-first. Each person gives a sample of DNA, from which millions of genetic variants are read using SNP arrays. If one type of variant (one allele) is more frequent in people with the disease, the variant is said to be associated with the disease. The associated SNPs are then considered to mark a region of the human genome that may influence the risk of disease.




How to Cite

Naqi, N. (2021). Genome Wide Association Studies (GWAS) Analysis and Advances in Medical Research. MedERA - Journal of CMH LMC and IOD, 3(1). 5558735