A polygenic transcriptome risk score (PTRS) is constructed using random forest to integrate gene-level effects across critical tissues and cell types and demonstrates that modeling nonlinear interactions between variant- and gene-level effects across both bulk tissue and single cell eQTL data improves the ability to determine high-risk individuals.
The findings demonstrate that integrating tissue-specific and ancestry-aware TWAS refines the identification of causal genes for T2D, with cross-ancestry replication supporting the robustness of these signals and cross-tissue analyses revealing context-specific effects.
I. Pagnuco, S. Eyre, M. Rattray et al.· medRxiv· 0 citations
An integrated cross-omics analysis identifies novel genetic loci and, crucially, uncovers specific nutrient-related metabolic pathways that mediate genetic risk in Aortic aneurysm and its subtypes.
Han-Xi Wang, Junjie Cheng, Jia-Li Yao et al.· Frontiers in Nutrition· 0 citations
This study offers a comprehensive eQTL map and reveals causal chains of “variant-gene-phenotype” for HAA-related traits, which provides new insights into potential regulatory mechanisms and targets for prevention and treatment of altitude sickness.
Chenghui Zhao, Jia-Wei Guan, Jun-Hua Liu et al.· Communications Biology· 0 citations
An approach comprising locus-specific stratification (LSS) and gene regulatory prioritisation score (GRPS), which uniquely considers multi-signals during fine-mapping and target gene identification, to address issues arising from multi-signals in complex diseases.
Jing Zhang, Qiao-Qiao Liu, Ye Zhu et al.· Nature Communications· 0 citations
This study demonstrates that the NCBC model improves the prioritization of biologically plausible candidate variants in a small and imbalanced CKD cohort, and support the integration of ML with GWAS to prioritize candidate genes and investigate the genetic architecture of complex diseases.
Dagnogo Dramane, M. Treccani, L. Veschetti et al.· Frontiers in Genetics· 0 citations
Background Systemic lupus erythematosus (SLE) has a complex polygenic architecture, but translating genome-wide association signals into biologically interpretable candidates remains challenging. We applied an integrative post-GWAS framework to refine SLE-associated loci and prioritize candidate regulatory mechanisms....
V. Modhukur, Masuma Khatun, Naisarg Patel et al.· Journal of Translational Aut...· 0 citations
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