Copertina

Assessing the Utility of Large Language Models for Phenotype-Driven Gene Prioritization in Rare Genetic Disorder Diagnosis

Fuente: arXiv

Salvato in:

Dettagli Bibliografici
Autori principali:	Kim, Junyoung, Yang, Jingye, Wang, Kai, Weng, Chunhua, Liu, Cong
Natura:	Preprint
Pubblicazione:	2024
Soggetti:	Quantitative Methods
Accesso online:	Acceder al recurso
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!

Documenti analoghi

Association in Facial Phenotype, Gene, Disease: A Dataset for Explainable Rare Genetic Diseases Diagnosis
di: Song, Jie, et al.
Pubblicazione: (2025)

Autonomous Agent-Orchestrated Digital Twins (AADT): Leveraging the OpenClaw Framework for State Synchronization in Rare Genetic Disorders
di: Chen, Hongzhuo, et al.
Pubblicazione: (2026)

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
di: Wu, Da, et al.
Pubblicazione: (2023)

SHREC: A Framework for Advancing Next-Generation Computational Phenotyping with Large Language Models
di: Pungitore, Sarah, et al.
Pubblicazione: (2025)

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

AutoProteinEngine: A Large Language Model Driven Agent Framework for Multimodal AutoML in Protein Engineering
di: Liu, Yungeng, et al.
Pubblicazione: (2024)

TourSynbio-Search: A Large Language Model Driven Agent Framework for Unified Search Method for Protein Engineering
di: Liu, Yungeng, et al.
Pubblicazione: (2024)

Gene-associated Disease Discovery Powered by Large Language Models
di: Chang, Jiayu, et al.
Pubblicazione: (2024)

Lightweight Language Models are Prone to Reasoning Errors for Complex Computational Phenotyping Tasks
di: Pungitore, Sarah, et al.
Pubblicazione: (2025)

PA-MIL: Phenotype-Aware Multiple Instance Learning Guided by Language Prompting and Genotype-to-Phenotype Relationships
di: Yang, Zekang, et al.
Pubblicazione: (2026)

Improving Genomic Prediction using High-dimensional Secondary Phenotypes: the Genetic Latent Factor Approach
di: Melsen, Killian A. C., et al.
Pubblicazione: (2024)

The Impact of Heatwaves on Population Health: A Large Language Model-Enhanced Agent-Based Simulation
di: Liu, Yuanhao, et al.
Pubblicazione: (2026)

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

GenoHoption: Bridging Gene Network Graphs and Single-Cell Foundation Models
di: Cheng, Jiabei, et al.
Pubblicazione: (2024)

A Platform for the Biomedical Application of Large Language Models
di: Lobentanzer, Sebastian, et al.
Pubblicazione: (2023)

OralGPT: A Two-Stage Vision-Language Model for Oral Mucosal Disease Diagnosis and Description
di: Zhang, Jia, et al.
Pubblicazione: (2025)

Reconstructing Noisy Gene Regulation Dynamics Using Extrinsic-Noise-Driven Neural Stochastic Differential Equations
di: Zhang, Jiancheng, et al.
Pubblicazione: (2025)

Guidelines in Wastewater-based Epidemiology of SARS-CoV-2 with Diagnosis
di: Fatima, Madiha, et al.
Pubblicazione: (2023)

Not All Accuracy Is Equal: Prioritizing Independence in Infectious Disease Forecasting
di: Dudley, Carson, et al.
Pubblicazione: (2025)

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

GRIMM: Genetic stRatification for Inference in Molecular Modeling
di: Babjac, Ashley, et al.
Pubblicazione: (2026)

Evaluating Integrative Strategies for Incorporating Phenotypic Features in Spatial Transcriptomics
di: Moser, Levin M, et al.
Pubblicazione: (2025)

Sleep Disorder Diagnosis Using EEG Signals and LSTM Deep Learning Method
di: Yousefi, Mohammad Reza, et al.
Pubblicazione: (2025)

Integrative Prognostic Modeling of Breast Cancer Survival with Gene Expression and Clinical Data
di: Amevor, Robert, et al.
Pubblicazione: (2025)

An Improved Metric and Benchmark for Assessing the Performance of Virtual Screening Models
di: Brocidiacono, Michael, et al.
Pubblicazione: (2024)

Integrating Deep Learning and Synthetic Biology: A Co-Design Approach for Enhancing Gene Expression via N-terminal Coding Sequences
di: Yan, Zhanglu, et al.
Pubblicazione: (2024)

Physics-Guided Surrogate Modeling for Machine Learning-Driven DLD Design Optimization
di: Islam, Khayrul, et al.
Pubblicazione: (2025)

Beyond BMI: Smartphone Body Composition Phenotyping for Cardiometabolic Risk Assessment
di: Zhou, Menglian, et al.
Pubblicazione: (2026)

LiveProteinBench: A Contamination-Free Benchmark for Assessing Models' Specialized Capabilities in Protein Science
di: Rong, Dingyi, et al.
Pubblicazione: (2025)

Hillclimb-Causal Inference: A Data-Driven Approach to Identify Causal Pathways Among Parental Behaviors, Genetic Risk, and Externalizing Behaviors in Children
di: Wei, Mengman, et al.
Pubblicazione: (2025)

SOWAHA as a Cancer Suppressor Gene Influence Metabolic Reprogramming
di: Yi, Xiaohong, et al.
Pubblicazione: (2024)

Unveiling Scaling Laws of Parameter Identifiability and Uncertainty Quantification in Data-Driven Biological Modeling
di: Wang, Shun, et al.
Pubblicazione: (2026)

Data-Driven Modeling of Amyloid-beta Targeted Antibodies for Alzheimer's Disease
di: Rabiei, Kobra, et al.
Pubblicazione: (2025)

DBgDel: Database-Enhanced Gene Deletion Framework for Growth-Coupled Production in Genome-Scale Metabolic Models
di: Yang, Ziwei, et al.
Pubblicazione: (2024)

GOPHER: Optimization-based Phenotype Randomization for Genome-Wide Association Studies with Differential Privacy
di: Nandi, Anupama, et al.
Pubblicazione: (2025)

Strategic Control of Drug-Resistant HIV: Multi-Strain Modeling with Diagnosis, Adherence, and Treatment Switching
di: Poonia, Ashish, et al.
Pubblicazione: (2025)

Improving Opioid Use Disorder Risk Modelling through Behavioral and Genetic Feature Integration
di: Légitime, Sybille, et al.
Pubblicazione: (2023)

Ferrohydrodynamic Microfluidics for Bioparticle Separation and Single-Cell Phenotyping: Principles, Applications, and Emerging Directions
di: Zhang, Yuhao, et al.
Pubblicazione: (2025)

Mathematical Discovery of Potential Therapeutic Targets: Application to Rare Melanomas
di: Aghaee, Mahya, et al.
Pubblicazione: (2025)

Assessing the effectiveness of test-trace-isolate interventions using a multi-layered temporal network
di: Cai, Yunyi, et al.
Pubblicazione: (2024)