arXiv subjects

Zhaohui Qin

Publications and source records attributed to Zhaohui Qin.

8 recordsLinked to original sources

arXiv2026

LLMBDC: Language Model for Biological Domains Oriented Clustering of Gene Ontology

Gene Ontology (GO) enrichment analysis is a foundational tool for translating large-scale genomic data into biological insights, but typically yields hundreds of redundant terms that obscure overarching themes. Existing summarization tools rely on fixed similarity metrics (REVIGO, GOSemSim, clusterProfiler::simplify()), gene-overlap measures (Metascape), or static hierarchy mappings (GO-slim), and therefore cannot incorporate biological context. Manual curation provides context-aware grouping but is subjective and labor-intensive. A scalable, context-aware framework is needed to cluster GO terms into interpretable higher-order biological domains. Here we present LLMBDC (Large Language Model for Biological Domains Oriented Clustering of Gene Ontology), a training-free framework that leverages zero-shot semantic reasoning of LLMs with confidence scoring to cluster GO terms into BioDomains using only ontology information at inference time. Benchmarked across Alzheimer's disease (AD) and Fragile X syndrome (FXS) against six baseline methods including SapBERT, LLMBDC achieved substantially higher precision, recall, and clustering performance. Against ground-truth annotations, LLMBDC improved ARI from 9.7% to 73.3% (AD) and from 15.7% to 66.6% (FXS) over REVIGO, with corresponding NMI gains from 59.9% to 73.4% (AD) and 66.0% to 79.5% (FXS). A Cauchy combination test further confirmed that aggregated BioDomains retained statistically significant functional signals. LLMBDC provides a scalable, reproducible, and interpretable route to context-aware, system-level interpretation of GO enrichment results while preserving biological specificity.

q-bio.GN↗

arXiv2026

A Temporal Machine Learning-Based Time-to-Event Model for Predicting ALS Progression and Healthcare Utilization

Amyotrophic lateral sclerosis (ALS) is a progressive and heterogeneous neurodegenerative disease in which predicting clinically meaningful milestones, such as assistive device use, remains challenging. We developed a time-to-event, digital-twin-inspired framework that integrates longitudinal ALS Functional Rating Scale-Revised (ALSFRS-R) trajectories with survival modeling to support individualized prediction of functional decline and assistive device utilization. We constructed a harmonized longitudinal dataset by integrating diagnosis records, ALSFRS-R assessments, activities of daily living, and demographic information, followed by preprocessing to ensure data quality, temporal alignment, and cohort consistency. Correlation-based clustering identified coherent functional domains spanning bulbar, upper limb, axial, lower limb, and respiratory systems. Generalized additive mixed models characterized nonlinear, domain-specific functional decline across all domains. In addition, a temporal machine learning model was developed to predict longitudinal functional decline and capture stage-dependent disease progression. Cox proportional hazards modeling further identified lower limb function, particularly walking and stair climbing, as the strongest predictors of earlier wheelchair access. Building on these results, we implemented a digital twin-inspired temporal machine learning-based time-to-event (TTE) model that generates individualized survival curves and dynamically predicts wheelchair-free survival. This framework provides a scalable, interpretable, and clinically actionable approach for linking ALS progression with personalized decision support, with applications in proactive care planning, clinical trial stratification, and precision medicine.

cs.LG↗

arXiv2025

Structural Disentanglement of Causal and Correlated Concepts

Controllable data generation aims to synthesize data by specifying values for target concepts. Achieving this reliably requires modeling the underlying generative factors and their relationships. In real-world scenarios, these factors exhibit both causal and correlational dependencies, yet most existing methods model only part of this structure. We propose the Causal-Correlation Variational Autoencoder (C2VAE), a unified framework that jointly captures causal and correlational relationships among latent factors. C2VAE organizes the latent space into a structured graph, identifying a set of root causes that govern the generative processes. By optimizing only the root factors relevant to target concepts, the model enables efficient and faithful control. Experiments on synthetic and real-world datasets demonstrate that C2VAE improves generation quality, disentanglement, and intervention fidelity over existing baselines.

cs.LG↗

arXiv2024

Controllable Data Generation by Deep Learning: A Review

Designing and generating new data under targeted properties has been attracting various critical applications such as molecule design, image editing and speech synthesis. Traditional hand-crafted approaches heavily rely on expertise experience and intensive human efforts, yet still suffer from the insufficiency of scientific knowledge and low throughput to support effective and efficient data generation. Recently, the advancement of deep learning has created the opportunity for expressive methods to learn the underlying representation and properties of data. Such capability provides new ways of determining the mutual relationship between the structural patterns and functional properties of the data and leveraging such relationships to generate structural data, given the desired properties. This article is a systematic review that explains this promising research area, commonly known as controllable deep data generation. First, the article raises the potential challenges and provides preliminaries. Then the article formally defines controllable deep data generation, proposes a taxonomy on various techniques and summarizes the evaluation metrics in this specific domain. After that, the article introduces exciting applications of controllable deep data generation, experimentally analyzes and compares existing works. Finally, this article highlights the promising future directions of controllable deep data generation and identifies five potential challenges.

cs.LG↗

arXiv2024

Gene-associated Disease Discovery Powered by Large Language Models

The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing techniques has significantly improved the efficiency and cost-effectiveness of detecting these genetic markers, playing a crucial role in disease diagnosis and forming the basis for clinical decision-making and early risk assessment. To overcome the limitations of existing databases that record disease-gene associations from existing literature, which often lack real-time updates, we propose a novel framework employing Large Language Models (LLMs) for the discovery of diseases associated with specific genes. This framework aims to automate the labor-intensive process of sifting through medical literature for evidence linking genetic variations to diseases, thereby enhancing the efficiency of disease identification. Our approach involves using LLMs to conduct literature searches, summarize relevant findings, and pinpoint diseases related to specific genes. This paper details the development and application of our LLM-powered framework, demonstrating its potential in streamlining the complex process of literature retrieval and summarization to identify diseases associated with specific genetic variations.

q-bio.QM↗

arXiv2023

Domain Generalization Deep Graph Transformation

Graph transformation that predicts graph transition from one mode to another is an important and common problem. Despite much progress in developing advanced graph transformation techniques in recent years, the fundamental assumption typically required in machine-learning models that the testing and training data preserve the same distribution does not always hold. As a result, domain generalization graph transformation that predicts graphs not available in the training data is under-explored, with multiple key challenges to be addressed including (1) the extreme space complexity when training on all input-output mode combinations, (2) difference of graph topologies between the input and the output modes, and (3) how to generalize the model to (unseen) target domains that are not in the training data. To fill the gap, we propose a multi-input, multi-output, hypernetwork-based graph neural network (MultiHyperGNN) that employs a encoder and a decoder to encode topologies of both input and output modes and semi-supervised link prediction to enhance the graph transformation task. Instead of training on all mode combinations, MultiHyperGNN preserves a constant space complexity with the encoder and the decoder produced by two novel hypernetworks. Comprehensive experiments show that MultiHyperGNN has a superior performance than competing models in both prediction and domain generalization tasks.

cs.LG↗

arXiv2023

A Complex-boundary Treatment Method for Finite Volume Schemes with Cut-Cartesian Cell Mesh

In this paper, a second-order accurate method was developed for calculating fluid flows in complex geometries. This method uses cut-Cartesian cell mesh in finite volume framework. Calculus is employed to relate fluxes and gradients along curved surfaces to cell-averaged values. The resultant finite difference equations are sparse diagonal systems of equations. This method does not need repeated polynomial interpolation or reconstruction. Two-dimensional incompressible lid-driven semi-circular cavity flow at two Reynolds numbers was simulated with the current method and second-order accuracy was reached. The current method might be extended to third-order accuracy.

math.NA↗

arXiv2014

A Statistical Model of Pressure Drop Increase with Deposition in Granular Filters

As deposits accumulate in a granular filter, pressure drop across the filter bed required to maintain a constant fluid flow rate may increase. Two pressure drop increase patterns had been observed. In slow sand filters pressure drop remains unchanged for a certain period of time then increases exponentially with the volume of filtrate; in granular aerosol filters pressure drop increases linearly with the amount of deposits from the beginning of the filtration process. New concepts of homogeneous and heterogeneous depositions were introduced in this paper. A statistical model based on these new concepts was developed. This non-linear model was able to reproduce both observed pressure drop increase patterns, including the linear one. Excellent agreements between the present model and experimental measurements were obtained. It was concluded that the two pressure drop increase patterns were indeed caused by different deposit distributions rather than different pressure drop increase mechanisms.

cond-mat.soft↗