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

Kun FANG; Guozhuang LI; Linting WANG; Qing LI; Kexin XU; Lina ZHAO; Zhihong WU; Jianguo ZHANG; Nan WU

Return

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

VernacularTitle:从基因表达到全转录组关联研究的方法学发展与比较
Author: Kun FANG ¹ ; Guozhuang LI ¹ ; Linting WANG ² ; Qing LI ¹ ; Kexin XU ¹ ; Lina ZHAO ¹ ; Zhihong WU ¹ ; Jianguo ZHANG ¹ ; Nan WU ¹
Author Information

1. Orthopedic Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;
2. Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing 100190, China;
Publication Type:Review
Keywords: genome-wide association study; transcriptome-wide association study; gene expression; methodology; transcriptome; genome
From: Medical Journal of Peking Union Medical College Hospital 2026;17(1):223-229
CountryChina
Language:Chinese
Abstract:
Over the past two decades, genome-wide association study(GWAS) has identified numerous 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 linkinggenetic 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.