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

ABSTRACT: 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 available resources.

SUBMITTER: Mai J

PROVIDER: S-EPMC10474133 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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

Mai Jialin J Lu Mingming M Gao Qianwen Q Zeng Jingyao J Xiao Jingfa J

Communications biology 20230901 1

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, TW ...[more]

PMID: 37658226

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Dataset Information

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

Publications

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

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