Pulse Brain · Growing Health Evidence Index
Peer-reviewed

Transcriptome-wide association studies: recent advances in methods, applications and available databases

Jialin Mai, Mingming Lu, Qianwen Gao, Jingyao Zeng, Jingfa Xiao

Communications Biology · 2023

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Summary

Genome-wide association study has identified fruitful variants impacting heritable traits. Nevertheless, identifying critical genes underlying those significant variants has been a great task. Transcriptome-wide association study (TWAS) is an instrumental post-analysis to detect significant gene-trait associations focusing on modeling transcription-level regulations, which has made numerous progresses in recent years. Leveraging from expression quantitative loci (eQTL) regulation information, TWAS has advantages in detecting functioning genes regulated by disease-associated variants, thus providing insight into mechanisms of diseases and other phenotypes. Considering its vast potential, this review article comprehensively summarizes TWAS, including the methodology, applications and availab

Source type
Peer-reviewed study
DOI
10.1038/s42003-023-05279-y
Catalogue ID
SNmoj1xuw9-dotjev
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