Genome-wide versus transcriptome-wide association studies: Prospects and limitations

Genome-wide Association Studies (GWAS) and Transcriptome-wide Association Studies (TWAS) are pivotal tools in genetics research. GWAS, with its comprehensive genome coverage, reveals insights into complex trait variations among different populations. It finds applications beyond gene identification, including historical population studies and linkage disequilibrium pattern assessments. However, GWAS faces challenges like multiple testing corrections and difficulties in pinpointing causal variants. Conversely, TWAS offers higher gene resolution and the potential for deeper insights into genetic mechanisms. Yet, TWAS prediction accuracy is contingent on gene heritability, and its complexity lies in navigating gene regulatory networks and epigenetic factors. Understanding the strengths and limitations of both GWAS and TWAS is crucial for harnessing their full potential in genetic research endeavours.