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Enhancing disease risk gene discovery by integrating transcription factor-linked trans-variants into transcriptome-wide association analyses.

Nucleic acids research - 7 Jan 2025

He Jingni, Perera Deshan, Wen Wanqing, Ping Jie, Li Qing, Lyu Linshuoshuo, Chen Zhishan, Shu Xiang, Long Jirong, Cai Qiuyin, Shu Xiao-Ou, Yin Zhijun, Zheng Wei, Long Quan, Guo Xingyi

Abstract excerpt

Transcriptome-wide association studies (TWAS) have been successful in identifying disease susceptibility genes by integrating cis-variants predicted gene expression with genome-wide association studies (GWAS) data. However, trans-variants for predicting gene expression remain largely unexplored. Here, we introduce transTF-TWAS, which incorporates transcription factor (TF)-linked trans-variants to enhance model...

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PMID: 39535029
DOI: 10.1093/nar/gkae1035
PMCID: PMC11724290

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