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DiagnoLLM: A Hybrid Bayesian Neural Language Framework for Interpretable Disease Diagnosis

arXiv 2511.05810 ↗First posted 8 Nov 2025cs.AI cs.CL cs.LGcited by 0

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Abstract (arXiv)

Building trustworthy clinical AI systems requires not only accurate predictions but also transparent, biologically grounded explanations. We present textttDiagnoLLM, a hybrid framework that integrates Bayesian deconvolution, eQTL-guided deep learning, and LLM-based narrative generation for interpretable disease diagnosis. DiagnoLLM begins with GP-unmix, a Gaussian Process-based hierarchical model that infers cell-type-specific gene expression profiles from bulk and single-cell RNA-seq data while modeling biological uncertainty. These features, combined with regulatory priors from eQTL analysis, power a neural classifier that achieves high predictive performance in Alzheimer's Disease (AD) detection (88.0% accuracy). To support human understanding and trust, we introduce an LLM-based reasoning module that translates model outputs into audience-specific diagnostic reports, grounded in clinical features, attribution signals, and domain knowledge. Human evaluations confirm that these reports are accurate, actionable, and appropriately tailored for both physicians and patients. Our findings show that LLMs, when deployed as post-hoc reasoners rather than end-to-end predictors, can serve as effective communicators within hybrid diagnostic pipelines.

Key facts. No citing papers in the map yet (data through 7 Oct 2026). Builds on 21 of its 49 references that are in the map. First posted on arXiv 8 Nov 2025.

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References · 21

  1. 2018BERT: Pre-training of Deep Bidirectional Transformers for Language Understandingcited by 40,204
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  11. 2025VisRL: Intention-Driven Visual Perception via Reinforced Reasoningcited by 39
  12. 2022BALF: Simple and Efficient Blur Aware Local Feature Detectorcited by 34
9 more
  1. 2024NumeroLogic: Number Encoding for Enhanced LLMs' Numerical Reasoningcited by 31
  2. 2025Plan and Budget: Effective and Efficient Test-Time Scaling on Reasoning Large Language Modelscited by 30
  3. 2021Understanding the Dynamics of DNNs Using Graph Modularitycited by 26
  4. 2024Wrong-of-Thought: An Integrated Reasoning Framework with Multi-Perspective Verification and Wrong Informationcited by 10
  5. 2025FlowMalTrans: Unsupervised Binary Code Translation for Malware Detection Using Flow-Adapter Architecturecited by 10
  6. 2022LUNA: Language Understanding with Number Augmentations on Transformers via Number Plugins and Pre-trainingcited by 8
  7. 2024scInterpreter: Training Large Language Models to Interpret scRNA-seq Data for Cell Type Annotationcited by 5
  8. 2022Application of Deep Learning on Single-Cell RNA-sequencing Data Analysis: A Reviewcited by 4
  9. 2025DISPROTBENCH: Uncovering the Functional Limits of Protein Structure Prediction Models in Intrinsically Disordered Regionscited by 1

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  1. 2024Profiling Patient Transcript Using Large Language Model Reasoning Augmentation for Alzheimer's Disease Detection
  2. 2026Chain-of-Thought Reasoning with Large Language Models for Clinical Alzheimer's Disease Assessment and Diagnosis
  3. 2026Uncertainty Reasoning with Large Language Models for Explainable Disease Diagnosis
  4. 2025An Explainable Diagnostic Framework for Neurodegenerative Dementias via Reinforcement-Optimized LLM Reasoning
  5. 2026NSIDDx: A Design Framework for Neuro-Symbolic, Practitioner-First Differential Diagnosis in Low-Resource Settings
  6. 2025ADAM: An AI Reasoning and Bioinformatics Model for Alzheimer's Disease Detection and Microbiome-Clinical Data Integration
  7. 2025Beyond Black-Box AI: Interpretable Hybrid Systems for Dementia Care
  8. 2025A Specialized Large Language Model for Clinical Reasoning and Diagnosis in Rare Diseases