Author

Tianyu Liu

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#artificial intelligence Preprint Sep 2026

RareDx: Controlled Knowledge Integration and Graph-Grounded Policy Optimization for Rare-Disease Diagnosis

Rare-disease diagnosis is a long-tail reasoning problem: phenotypes are incomplete, individual disorders are sparsely documented, and relevant evidence is distributed across ontologies, gene annotations, and biomedical text. Language models consequently favor common conditions, miss rare candidates, or produce plausibl...

Bo Zhang, Yu-Chen Wang, Dong-Bai Li et al. · 0 citations

Open access Sep 2026

Single-cell transcriptomic atlas of Alzheimer's disease middle temporal gyrus reveals region, cell type, and sex specificity of gene expression with novel genetic risk for MERTK in female.

BackgroundAlzheimer's disease (AD), the most common age-related neurodegenerative disease, is closely associated with both amyloid-β plaque and neuroinflammation. Two thirds of AD patients are female, and they have a higher disease risk; women with AD have more extensive brain histological changes than men along with m...

Le Zhang, Tian-Yu Liu, Chuan He et al. · Journal of Alzheimer's Disea... · 0 citations

Open access Jul 2026

Cell-type-specific polygenic risk scores reveal adipocyte-related interactions with lipids in coronary artery disease

Background: Genome-wide polygenic risk scores (PRSs) for coronary artery disease (CAD) aggregate genetic effects across the genome and may obscure biologically distinct mechanisms. We aimed to develop cell-type-specific PRSs (csPRSs) using single-cell RNA sequencing (scRNA-seq) data and investigate their interactions w...

Jiaqi Hu, Leqi Xu, Tianyu Liu et al. · medRxiv · 0 citations