Cover Image

LA-MARRVEL: A Knowledge-Grounded, Language-Aware LLM Framework for Clinically Robust Rare Disease Gene Prioritization

Fuente: arXiv

Saved in:

Bibliographic Details
Main Authors:	Lee, Jaeyeon, Yao, Lin, Jeong, Hyun-Hwan, Liu, Zhandong
Format:	Preprint
Published:	2025
Subjects:	Genomics Artificial Intelligence
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Survey and Improvement Strategies for Gene Prioritization with Large Language Models
by: Neeley, Matthew, et al.
Published: (2025)

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
by: Liu, Tianyu, et al.
Published: (2026)

Knowledge Graph Sparsification for GNN-based Rare Disease Diagnosis
by: Cara, Premt, et al.
Published: (2025)

RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
by: Qi, Guantong, et al.
Published: (2026)

Knowledge-guided Contextual Gene Set Analysis Using Large Language Models
by: Wang, Zhizheng, et al.
Published: (2025)

GeneZip: Region-Aware Compression for Long Context DNA Modeling
by: Zhao, Jianan, et al.
Published: (2026)

GenoTEX: An LLM Agent Benchmark for Automated Gene Expression Data Analysis
by: Liu, Haoyang, et al.
Published: (2024)

DNA Language Model and Interpretable Graph Neural Network Identify Genes and Pathways Involved in Rare Diseases
by: Saadat, Ali, et al.
Published: (2024)

GeneSUM: Large Language Model-based Gene Summary Extraction
by: Chen, Zhijian, et al.
Published: (2024)

Gene-R1: Reasoning with Data-Augmented Lightweight LLMs for Gene Set Analysis
by: Wang, Zhizheng, et al.
Published: (2025)

DYNA: Disease-Specific Language Model for Variant Pathogenicity
by: Zhan, Huixin, et al.
Published: (2024)

Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes
by: Wang, Zhanliang, et al.
Published: (2025)

PathGene: Benchmarking Driver Gene Mutations and Exon Prediction Using Multicenter Lung Cancer Histopathology Image Dataset
by: Pan, Liangrui, et al.
Published: (2025)

MethConvTransformer: A Deep Learning Framework for Cross-Tissue Alzheimer's Disease Detection
by: Qu, Gang, et al.
Published: (2026)

Learning to Discover Regulatory Elements for Gene Expression Prediction
by: Su, Xingyu, et al.
Published: (2025)

FGBERT: Function-Driven Pre-trained Gene Language Model for Metagenomics
by: Duan, ChenRui, et al.
Published: (2024)

JEPA-DNA: Grounding Genomic Foundation Models through Joint-Embedding Predictive Architectures
by: Larey, Ariel, et al.
Published: (2026)

scGSDR: Harnessing Gene Semantics for Single-Cell Pharmacological Profiling
by: Huang, Yu-An, et al.
Published: (2025)

ConSol: Sequential Probability Ratio Testing to Find Consistent LLM Reasoning Paths Efficiently
by: Lee, Jaeyeon, et al.
Published: (2025)

DeepGene Transformer: Transformer for the gene expression-based classification of cancer subtypes
by: Khan, Anwar, et al.
Published: (2021)

Meta-Learning on Augmented Gene Expression Profiles for Enhanced Lung Cancer Detection
by: Moghaddam, Arya Hadizadeh, et al.
Published: (2024)

Leveraging Gene Expression Data and Explainable Machine Learning for Enhanced Early Detection of Type 2 Diabetes
by: Roy, Aurora Lithe, et al.
Published: (2024)

ELISA: An Interpretable Hybrid Generative AI Agent for Expression-Grounded Discovery in Single-Cell Genomics
by: Coser, Omar
Published: (2026)

DNABERT-2: Fine-Tuning a Genomic Language Model for Colorectal Gene Enhancer Classification
by: King, Darren, et al.
Published: (2025)

GeneGPT: Augmenting Large Language Models with Domain Tools for Improved Access to Biomedical Information
by: Jin, Qiao, et al.
Published: (2023)

Context-Aware Regularization with Markovian Integration for Attention-Based Nucleotide Analysis
by: Refahi, Mohammadsaleh, et al.
Published: (2025)

Probing 3D Chromatin Structure Awareness in Evo2 DNA Language Model
by: Lee, UkJin
Published: (2026)

PhenoGnet: A Graph-Based Contrastive Learning Framework for Disease Similarity Prediction
by: Baminiwatte, Ranga, et al.
Published: (2025)

Gene Incremental Learning for Single-Cell Transcriptomics
by: Qi, Jiaxin, et al.
Published: (2025)

Gene Set Summarization using Large Language Models
by: Joachimiak, Marcin P., et al.
Published: (2023)

Enhanced Gene Selection in Single-Cell Genomics: Pre-Filtering Synergy and Reinforced Optimization
by: Zhang, Weiliang, et al.
Published: (2024)

GenoMAS: A Multi-Agent Framework for Scientific Discovery via Code-Driven Gene Expression Analysis
by: Liu, Haoyang, et al.
Published: (2025)

Knowledge-Guided Biomarker Identification for Label-Free Single-Cell RNA-Seq Data: A Reinforcement Learning Perspective
by: Xiao, Meng, et al.
Published: (2025)

Celler:A Genomic Language Model for Long-Tailed Single-Cell Annotation
by: Zhao, Huan, et al.
Published: (2025)

scPilot: Large Language Model Reasoning Toward Automated Single-Cell Analysis and Discovery
by: Gao, Yiming, et al.
Published: (2026)

Machine Learning-Based Genomic Linguistic Analysis (Gene Sequence Feature Learning): A Case Study on Predicting Heavy Metal Response Genes in Rice
by: Yang, Ruiqi, et al.
Published: (2025)

xTrimoGene: An Efficient and Scalable Representation Learner for Single-Cell RNA-Seq Data
by: Gong, Jing, et al.
Published: (2023)

Toward a Team of AI-made Scientists for Scientific Discovery from Gene Expression Data
by: Liu, Haoyang, et al.
Published: (2024)

BSM: Small but Powerful Biological Sequence Model for Genes and Proteins
by: Xiang, Weixi, et al.
Published: (2024)

Open World Knowledge Aided Single-Cell Foundation Model with Robust Cross-Modal Cell-Language Pre-training
by: Wang, Haoran, et al.
Published: (2026)