From Gene Expression to Transcriptome-wide Association Study:Development and Comparison of Methodology

Over the past two decades, genome-wide association study (GWAS) has identified numer- ous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study (TWAS) offers a novel perspective by linking genetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.