دورية أكاديمية

Enhancing Disease Risk Gene Discovery by Integrating Transcription Factor-Linked Trans-located Variants into Transcriptome-Wide Association Analyses.

التفاصيل البيبلوغرافية
العنوان: Enhancing Disease Risk Gene Discovery by Integrating Transcription Factor-Linked Trans-located Variants into Transcriptome-Wide Association Analyses.
المؤلفون: He J, Perera D, Wen W, Ping J, Li Q, Lyu L, Chen Z, Shu X, Long J, Cai Q, Shu XO, Zheng W, Long Q, Guo X
المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 07. Date of Electronic Publication: 2024 Jul 07.
نوع المنشور: Journal Article; Preprint
اللغة: English
بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
مستخلص: 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-located variants for predicting gene expression remain largely unexplored. Here, we introduce transTF-TWAS, which incorporates transcription factor (TF)-linked trans-located variants to enhance model building. Using data from the Genotype-Tissue Expression project, we predict gene expression and alternative splicing and applied these models to large GWAS datasets for breast, prostate, and lung cancers. We demonstrate that transTF-TWAS outperforms other existing TWAS approaches in both constructing gene prediction models and identifying disease-associated genes, as evidenced by simulations and real data analysis. Our transTF-TWAS approach significantly contributes to the discovery of disease risk genes. Findings from this study have shed new light on several genetically driven key regulators and their associated regulatory networks underlying disease susceptibility.
تواريخ الأحداث: Date Created: 20231024 Latest Revision: 20240709
رمز التحديث: 20240709
مُعرف محوري في PubMed: PMC10593059
DOI: 10.1101/2023.10.10.23295443
PMID: 37873299
قاعدة البيانات: MEDLINE
الوصف
DOI:10.1101/2023.10.10.23295443