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medRxiv 🔬 Genomics 🏥 Clinical & Healthcare
EAGLE-AI: A large language model workflow for automated extraction and scoring of literature evidence linking genes to autism spectrum disorder
V. Furlan, J. Moran, N. B. Salazar, O. Rennie +6
We previously developed the Evaluation of Autism Gene Link Evidence (EAGLE) curation framework and usit to characterise 219 autism-associated genes. However, this took years of…
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medRxiv 🏥 Clinical & Healthcare
Extracting patient reported cannabis use and reasons for use from electronic health records: a benchmarking study of large language models
Y. Wang, S. Bozkurt, N. Le, A. Alagappan +5
Key messagesWhat is already known on this topic Cannabis use is increasingly documented in EHR narrative text, but structured fields do not capture use status or symptom related…
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medRxiv 🏥 Clinical & Healthcare 🔬 Genomics
DentaCoPilot: An LLM-Augmented Next-Procedure Recommender for General Dentistry, Designed for Dentist Augmentation
C. C. Rodrigues, S. D. Rebello
BackgroundCommercial dental artificial intelligence in 2026 is over-whelmingly diagnostic: caries, calculus, periapical, and bone-level detection on radiographs. The clinically…
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medRxiv 🏥 Clinical & Healthcare 🔬 Genomics
Sequential Deep Learning to Predict Non-Central to Central Geographic Atrophy Progression from OCT Imaging
S. Siraz, H. Kamanda, A. S. Nabil, S. Gholami +3
PurposeTo develop and validate a temporal deep learning framework for predicting geographic atrophy (GA) progression across multi-year horizons using longitudinal optical…
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medRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🎗️ Oncology
A blinded, counterbalanced rater design for evaluating AI-assisted summarisation of tertiary clinical genomics reports: methodology of the QNOMX-VHIR-CPSP-001 Phase 1 study
J. Creeden, M. Olivecrona, A. Soriano
BackgroundTertiary clinical genomics reports condense layered molecular findings into documents that treating oncologists must read, translate, and act upon; manual summarisation…
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medRxiv 🔬 Genomics 🏥 Clinical & Healthcare
Multi-omics data fusion reveals divergent molecular signatures of intra-articular micro-fragmented adipose tissue and hyaluronic acid treatment in inflammatory-phenotype knee osteoarthritis
D. Primorac, V. Molnar, P. Brlek, L. Bulic +6
Knee osteoarthritis (KOA) affects an estimated 374 million people worldwide and has no approved disease-modifying treatment. Intra-articular micro-fragmented adipose tissue (MFAT)…
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medRxiv 🏥 Clinical & Healthcare
Multisite Real-World Validation of an Electronic Health Record-Integrated Generative Artificial Intelligence Tool for Venous Thromboembolism Risk Stratification
D. J. Baughman, S. Liu, S. Jee, C. Young +12
BackgroundGuiding risk-appropriate inpatient thromboprophylaxis requires venous thromboembolism (VTE) risk stratification; however, reliable risk determination remains…
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medRxiv 🏥 Clinical & Healthcare
Agentic Artificial Intelligence for Hospital Readmission Review: A Single-Center Blinded Evaluation and Exploratory Qualitative Analysis
M. F. Gensheimer, R. Adhikari, C. Parmer-Chow, N. Liu +2
BackgroundManual review of 30-day hospital readmissions can identify actionable quality and safety problems, but it is labor-intensive. We developed and evaluated an agentic AI…
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medRxiv 🏥 Clinical & Healthcare
Validation of an Artificial Intelligence-Assisted Mobile Application for Dietary Oxalate Assessment in Kidney Stone Prevention
K. B. Scotland, O. A. Ojo, F. Anokwuru, J. Javaherforoush +4
BackgroundCalcium oxalate nephrolithiasis is the most common type of kidney stone disease. Dietary oxalate intake is an important modifiable factor. Assessing dietary oxalate…
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medRxiv 🏥 Clinical & Healthcare
Extraction of Glaucoma Diagnosis, Type, and Severity from Clinical Notes using Secure Cloud-based Large Language Models
G. A. Samico, N. Solages, R. Scherer, R. Muralidhar +4
PurposeTo evaluate the performance of secure cloud-based large language models (LLMs) in extracting glaucoma diagnosis, type, and severity from free-text clinical notes in the…
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medRxiv 🏥 Clinical & Healthcare
The Unreliable Judges: Assessing Reproducibility and Self-Preference Bias of LLMs as Free-Text Evaluators
J. I. Alvarez-Arenas, D. Jimenez-Carretero, D. Mananes, F. Sanchez-Cabo
Large Language Models (LLMs) are transforming clinical practice and research, but their adoption requires rigorous evaluation. While human assessment is ideal, its cost has driven…
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medRxiv 🏥 Clinical & Healthcare
Adverse Childhood Experiences and Growth Outcomes in Childhood: A Longitudinal EHR-Based Study
S. Palmer, C. Shyr, T. J. Morley, J. Shelley +5
QuestionAre adverse childhood experiences (ACEs) associated with altered growth trajectories in childhood? FindingsIn this cohort study of 412,549 children and adolescents, ACEs…
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medRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🎗️ Oncology
MOSAIC: Methylation-Oriented Site Analysis and Information Classifier for Robust Epigenomic Classification of Acute Leukemia in Clinical Cohorts with Variable Tumor Purity
A. Shah, D. Green, L. Wainmann, J. Karrs +1
DNA methylation-based classification offers a rapid diagnostic complement to conventional molecular workflows in acute leukemia. Existing classifiers are trained on array-derived…
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medRxiv 🏥 Clinical & Healthcare
Artificial Intelligence-informed mobile behavioural interventions to support adolescents mental health in schools: protocol for a randomised controlled trial using the MindCraft app
A. Freccero, J. Elkes, B. Kadirvelu, A. Versi +4
BackgroundChildren and young people (CYP) are particularly affected by mental health problems. Mobile apps provide a scalable and accessible approach to adolescent mental health…
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medRxiv 🩻 Medical Imaging 🏥 Clinical & Healthcare
Evaluating Deep-Learning Based Quantification of Breast Arterial Calcification on Mammography for Cardiovascular Risk Assessment
P. Singh, S. Platt, O. Bussey, L. Heacock +6
PurposeTo develop and evaluate a deep learning model for automated quantification of breast arterial calcification (BAC) on screening mammography and to assess whether AI-derived…
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medRxiv 🧠 Neuroscience & Brain 🏥 Clinical & Healthcare
Human Intuition vs. Computational Precision: Neurologists, Feature-based Models, and Deep Learning for Stroke Prognosis
L. Herzog, N. Blindenbacher, C. Globas, M. I. Haeberlin +7
BackgroundPrognostication in large vessel occlusion (LVO) stroke remains challenging. Although several prognostic models exist, their comparison to clinician performance,…
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medRxiv 🧠 Neuroscience & Brain 🏥 Clinical & Healthcare 🩻 Medical Imaging
Predicting Motor Recovery After Stroke: Utility and Limits of Corticospinal Tract Biomarkers
E. S. Rickers, T. Paul, F. Esser, L. Hensel +10
BackgroundCorticospinal tract (CST) damage is a major cause of post-stroke motor deficits. However, it remains unclear which estimates of CST damage best predict motor recovery,…
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medRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🧠 Neuroscience & Brain
AlphaGenome identifies a deep intronic variant in a family with PLA2G6-associated neurodegeneration: Closing the diagnostic gap in rare genetic diseases
S. J. Eger, G. Lopez, L. F. Gomez Navarro, A. Pena-Tauber +9
A molecular diagnosis remains out of reach for a substantial subset of patients with clinically recognizable Mendelian disorders, even after comprehensive next-generation…
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medRxiv 🏥 Clinical & Healthcare 🔬 Genomics
Hard to Halt: Automation Bias in Agent-Driven Sequencing Prior Authorization Workflows
M. Nie, W. Chung, J. Waxler, M. Lee +5
PurposePrior authorization (PA) for exome or genome sequencing is a time-consuming process that impedes timely rare disease diagnosis. Large language model-based browser agents…
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medRxiv 🏥 Clinical & Healthcare
Comparative Evaluation of Pretrained Large Language Models for Suicide Risk Prediction from Clinical Notes in U.S. Veterans
J. Levy, M. Levis, M. Dimambro, L. Rozema +7
BackgroundSuicide remains a significant and potentially preventable cause of death among United States veterans. Predictive models based on structured electronic health record…
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medRxiv
From Paper Letters to an Integrated Digital Workflow: Improving Efficiency, Reliability, and Engagement in Health Guidance
I. Kakizaki, E. Hirafuji, M. Araba, R. Yoshida +1
BackgroundPost-checkup health guidance in Japan has traditionally relied on paper-based communication and manual administrative processes. These workflows are time-consuming,…
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medRxiv 🏥 Clinical & Healthcare 🩻 Medical Imaging
Chest X-Ray as a critical screening tool for Household Contacts of TB: Lessons from Three Years of Programmatic Data in India
R. Sodhi, P. Das, A. Khanna, V. Dhawan +4
IntroductionHousehold contacts (HHCs) of pulmonary TB patients remain at high risk for TB infection and disease progression, yet many remain asymptomatic and are missed by…
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medRxiv 🏥 Clinical & Healthcare
Personalizing Suicide Risk Assessment: Machine Learning Extraction of Cross-Modal Interactions Between Psychosocial and Demographic Factors in Veterans
M. E. Levis, B. Shiner, M. Dimambro, L. Rozema +7
BackgroundVeterans face an elevated risk of suicide compared to the general population, motivating national efforts to develop predictive models that can guide proactive care.…
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medRxiv 🏥 Clinical & Healthcare 🧠 Neuroscience & Brain
Method comparisons for differentiation of Schizophrenia and Bipolar based on rs-fMRI Intrinsic and Functional Networks
D. Janeva, M. Breyton, S. Markovska-Simoska, R. Guilhaumou +4
Psychosis as a symptom manifests in schizophenia and bipolar disorder, two highly heterogeneous psychiatric illnesses with over-lapping clinical manifestations. Resting-state…
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medRxiv 🏥 Clinical & Healthcare 🛡️ Immunology
Nickel and Dimed: How a Common Earth Element is Short-Changing Our Health
C. Heitzig, D. Rehkopf
Nickel has been studied for a long time as an environmental contaminant but less so in its connection to population health. It does not announce itself as loudly as its transition…
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medRxiv 🏥 Clinical & Healthcare
Silent Manipulation of Mental Health Treatment Recommendations from a Large Language Model
R. H. Perlis
ImportanceLarge language models (LLMs) increasingly inform mental health decisions by patients and clinicians. Inference-time activation steering can shift model behavior on a…
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medRxiv 🏥 Clinical & Healthcare
Wearable-Grade Lead Reduction Disproportionately Degrades ECG AI Performance in Elderly Patients: Evidence from PTB-XL and MIT-BIH
K. R. Tiruwa, A. Ghimire
Consumer wearable devices increasingly use single-lead electrocardiograms (ECGs) for cardiac monitoring, but these signals contain substantially less spatial information than the…
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medRxiv 🏥 Clinical & Healthcare
Identifying anaphylaxis using weakly-supervised prediction models and natural language processing
B. D. Williamson, D. J. Cronkite, O. Yu, A. Ramaprasan +15
ObjectivesScalable computable phenotyping algorithms are critical for conducting high-throughput disease-outcome research in large, distributed-data electronic health record (EHR)…
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medRxiv 🩻 Medical Imaging 🏥 Clinical & Healthcare 🎗️ Oncology
LLM-Driven Extraction of NI-RADS and Imaging Tumor Characteristics to Enhance Oropharyngeal Cancer Survivorship Surveillance
W. Song, L. Shbita, I. J. H. Jang, O. Starostina +13
PurposeRadiologic surveillance is essential for oropharyngeal cancer (OPC) survivors, guiding recurrence detection and follow-up strategies. The Neck Imaging Reporting and Data…
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medRxiv 🩻 Medical Imaging 🏥 Clinical & Healthcare 🎗️ Oncology
Cross-Device Adaptation of Mirai for Mammography-Based Breast Cancer Risk Prediction
A. Sistig, J. H. Rothstein, T. Gadgil, N. Achacoso +12
Fine-tuning can adapt pretrained medical imaging models to new clinical datasets, but device-specific domain shifts may limit generalizability. We evaluated Mirai, a…
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medRxiv 🏥 Clinical & Healthcare
Deep learning for interactive and automated inner retinal layer segmentation in OCT images of patients with retinitis pigmentosa using limited training data
D. S. Laurence, M. Schilling, N.-A. Grimm, E. Mace +2
PurposeNew therapeutic strategies such as optogenetics have created a need for accurate tracking of inner retina degeneration in Retinitis pigmentosa (RP) patients. We introduce…
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medRxiv 🏥 Clinical & Healthcare
MedAgent: A Retrieval-Augmented Clinical Decision Support Agent with Verifiable Evidence Grounding for Evidence-Based Medicine
F. Wang, Z. Guo, Z. Ye
Evidence-based medicine demands clinical answers that are not only fluent and medically plausible, but also anchored in traceable evidence, tailored to patient-specific clinical…
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medRxiv 🏥 Clinical & Healthcare 🩻 Medical Imaging 🎗️ Oncology
WITHDRAWN: Advancing Breast Cancer-AI Diagnostics: An Explainable Deep Learning Model Using 2D Grayscale Ultrasound Imaging
G. H. Abbas, S. U. Rehman, G. Bargshady
Withdrawal StatementThe authors have withdrawn this manuscript because of conflict of interest reasons, and one of the co-authors do not agree with the methodology. Therefore, the…
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medRxiv 🏥 Clinical & Healthcare
Usability testing with a prototype user interface of an Artificial Intelligence driven air-Safety Tool (AISaT)
S. E. Clark, R. Torii, Y. Li, S. Mathur +5
Involving end-users in the development of an AI tool is an important facilitator to its implementation. Usability testing was therefore conducted with a prototype user interface…
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medRxiv 🏥 Clinical & Healthcare
Utilising Artificial Intelligence to Identify Ventricular Tachycardia Ablation Targets in Sinus Rhythm
X. Wang, J. Mayer, A. Dennis, A. Chow +7
Background and AimsMachine learning has shown potential in predicting ablation targets for ventricular tachycardia (VT) in an animal model. This study progresses to externally…
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medRxiv 🏥 Clinical & Healthcare
Ranking-optimized survival models can underperform fixed-horizon clinical prediction: a SUPPORT2 reanalysis of machine learning, attending-physician judgment, and the original SUPPORT model at 60- and 180-day mortality
Q. H. Truong, D. C. Hoang, D. T. Luu
Machine-learning survival models are increasingly proposed for intensive-care mortality prediction and are usually judged by the concordance index, a ranking metric averaged over…
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medRxiv 🏥 Clinical & Healthcare 🩻 Medical Imaging 🎗️ Oncology 🔬 Genomics 🧠 Neuroscience & Brain
A MULTICENTER SWEDISH HISTOPATHOLOGY IMAGE DATASET OF PEDIATRIC CENTRAL NERVOUS SYSTEM TUMORS
P. NYMAN, I. E. Tampu, A. Shamikh, G. Prochazka +13
Refined detection methods, more detailed tumor characterization, and adequate distinction between different pediatric tumor subtypes are necessary to improve diagnosis and…
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medRxiv 🎗️ Oncology 🏥 Clinical & Healthcare 🩻 Medical Imaging 🧠 Neuroscience & Brain
AI-assisted continuous-time modelling of metastatic breast cancer reveals subtype-specific spatiotemporal organ interactions
M. Vaisband, G. Rinnerthaler, S. P. Gampenrieder, N. Binder +16
Metastatic breast cancer is one of the leading causes of premature mortality among women worldwide. A major barrier to optimal care is the marked heterogeneity in both the…
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medRxiv 🏥 Clinical & Healthcare 🛡️ Immunology 🧬 Protein Design
Presurgical immune biomarkers associated with pain intensity and pain interference recovery after total knee arthroplasty: findings from the PRIME-KNEE study
C. B. Simon, V. B. Kraus, J. L. Huebner, M. C. Ashner +5
Chronic postsurgical pain (CPSP) prevalence after total knee arthroplasty (TKA) is >20%. Circulating immune biomarkers are known factors of musculoskeletal pain but poorly…
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bioRxiv 🔬 Genomics ⚛️ MD & Structural Biology 🧬 Protein Design
Single-allele chromatin folding is organized by recurrent motifs that are reweighted across cell types and states
O. Messina, J.-B. Fiche, G. Ganesh, C. Elkhoury Youhanna +9
Chromatin folding exhibits extensive cell-to-cell variability, yet whether this variability is dominated by continuously varying conformations or by recurrent organizational…
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bioRxiv 🔬 Genomics 🎗️ Oncology
Robust integration of weakly anchored spatial multi-omics
C. Wang, Y. Liu, Z. Wang, P. Sun +12
Spatial multi-omics holds great promise for dissecting complex biological processes, though inherent technical constraints continue to limit its widespread adoption. Currently,…
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bioRxiv 🔬 Genomics 💊 Molecular & Drug Design 🦠 Single-cell
Identifying Modulators of Cellular Responses by Heterogeneity-sequencing
K. Berg, L. Sakellaridi, T. Rummel, T. Hennig +10
The response of individual cells to drug treatment, virus infections or other molecular stimuli is highly heterogeneous and depends on the cells initial state. Library preparation…
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bioRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🎗️ Oncology 🧬 Protein Design
Super Learner Ensemble Modeling of CPTAC Proteomic Data for Survival Prediction in Head and Neck Squamous Cell Carcinoma
E. Park, H. Lee, E. J. Oh, T. Tham +1
Survival analysis in head and neck squamous cell carcinoma (HNSCC) is traditionally performed using Cox proportional hazards models, alongside some exploration into black-box…
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bioRxiv 🔬 Genomics 🛡️ Immunology ⚛️ MD & Structural Biology 🧬 Protein Design 💊 Molecular & Drug Design
RareFold: Structure prediction and design of proteins with noncanonical amino acids
Q. Li, D. Daumiller, F. Zuo, H. Marcotte +2
Protein structure prediction and design have traditionally been confined to the 20 canonical amino acids. Expanding this chemical space to include non-canonical amino acids…
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bioRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🦠 Single-cell
PhenoBIC: operator-free single-cell spatial phenotyping in multiplex imaging data using deep learning of cell staining patterns
A. Sankaranarayanan, C. Zhao, M. G. Hernandez, E. A. Clemens +7
Multiplex imaging is a valuable tool for spatially examining tissue microenvironments at the single-cell level to uncover biological and clinical insights. However, most multiplex…
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bioRxiv 🔬 Genomics 🏥 Clinical & Healthcare 🛡️ Immunology 🎗️ Oncology 🧬 Protein Design 💊 Molecular & Drug Design 🦠 Single-cell
A Transformer-derived transcriptomic score associates with ex-vivo drug response in AML
J. Barman, S. Adhikari, C. Heckman, M. Vaha-Koskela
BackgroundDrug-tolerant persister (DTP) cell states have been implicated in relapse across multiple cancers, including acute myeloid leukaemia (AML) [1,2]. Methods that score such…
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bioRxiv 🔬 Genomics 🦠 Single-cell
scIsoAgent enables autonomous isoform-resolved characterization and sequence-informed interpretation of long-read single-cell transcriptomes
C. Zhao, M. Liu, X. Li, D. Li +2
Alternative isoform usage can alter gene function independently of total gene expression, creating a need to resolve transcript isoforms at single-cell resolution. Long-read…
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bioRxiv 🏥 Clinical & Healthcare
Machine learning surrogate forward models for biomechanical laryngeal control
J. A. Parra Pena, C. Sorolla, N. F. Quinteros Veas, E. J. Ibarra +5
Accurate modeling of laryngeal motor control is key to understanding typical and disordered voice production. However, traditional biomechanical plant models based on ordinary…
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bioRxiv 🧬 Protein Design 💊 Molecular & Drug Design
BoltzGen: Toward Universal Binder Design
H. Stark, F. Faltings, M. Choi, Y. Xie +37
We introduce BoltzGen, an all-atom generative model for designing proteins and peptides across all modalities to bind a wide range of biomolecular targets. BoltzGen builds strong…
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medRxiv 🏥 Clinical & Healthcare
GLLaucoMed: A Secure LLM-Powered Agentic Workflow for Automated Medication Extraction from Free-Text Glaucoma Clinical Notes
N. Solages, R. Scherer, G. A. Samico, N. E. Gutkind +3
PurposeTo evaluate the efficacy of large language models (LLMs) in extracting medication-related information from glaucoma clinical notes in the electronic health record (EHR).…
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medRxiv 🏥 Clinical & Healthcare
Cost-Performance Evaluation of Large Language Models for Aspect-Based Sentiment Analysis of HCAHPS Patient Comments: A Validation Study
K. Nawab, G. Ramsey, S. Asfandiyar, S. Atreya +10
BackgroundHospital Consumer Assessment of Healthcare Providers and Systems (HCAHPS) free-text comments contain actionable feedback, but timely, scalable, and affordable sentiment…
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medRxiv 🏥 Clinical & Healthcare
SPIRIT-CONSORT-ELM: Element-Level Assessment of Randomized Controlled Trial Reporting Using Large Language Models
L. Jiang, X. Ying, A. W. Brown, M. Lan +5
Randomized controlled trials (RCTs) play a central role in assessing the benefits and harms of interventions. Incomplete reporting in RCT publications can compromise the…
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medRxiv 🏥 Clinical & Healthcare
Comparative Analysis of Machine Learning Models vs. Traditional Clinical Calculators for Cardiovascular Risk Prediction
N. Arango Plaza, G. E. Salcedo Echeverry, A. F. Arenas-Soto
BackgroundCardiovascular diseases (CVD) remain the leading global cause of mortality, responsible for approximately 31% of all deaths worldwide in 2021. Traditional risk…
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medRxiv 🏥 Clinical & Healthcare 🩻 Medical Imaging 🎗️ Oncology 🧠 Neuroscience & Brain
Natural Language Processing Based Solution for Labeling Brain Metastasis Identified in Radiology Reports
T. Liu, Y. T. Han, H. Zuo, S. Das +15
PurposeBrain metastases (BM) far exceed primary CNS tumours and constitute the majority workload for neuro-oncology care providers. Currently, the cancer registries only capture…
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medRxiv 🧠 Neuroscience & Brain 🏥 Clinical & Healthcare 🧬 Protein Design
Data-Driven Stochastic Model for Detecting Patientswith Alzheimer's Disease
G. D. Abeywardana, C. Tsokos
Alzheimers disease (AD) is a critical neurological disorder that causes the brain to shrink and leads to the eventual death of brain cells, adversely affecting a persons ability…
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medRxiv 🏥 Clinical & Healthcare
Evaluating Large Language Models for Assessment of Psychosis Risk
T. Zhu, A. Tashevski, M. Taquet, M. Azis +11
Psychosis prevention relies on early detection of individuals at clinical high risk for psychosis (CHR-P). The effectiveness of the CHR-P state is constrained, in part due to…
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medRxiv 🏥 Clinical & Healthcare
VarEx: A Large Language Model Pipeline for Automated Extraction of Exposures, Outcomes, and Covariates from Epidemiologic Studies
S. A. Malec, M. Pradhan, R. Upadhayaya, V. Metzger
BackgroundSystematic reviews of observational studies are central to causal inference in chronic disease epidemiology but are increasingly limited by the scale of the literature…
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medRxiv 🏥 Clinical & Healthcare
Evaluation of AI-Generated Synthetic Data for Clinical Research in Secondary Cardiovascular Prevention among Dyslipidemia Patients
A. Bonomi, J. P. Werba, S. Saccani, L. L. Lu +8
BackgroundAccess to high-quality clinical data is essential for advancing medical research and developing effective medical statistical and Artificial Intelligence models.…
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medRxiv 🏥 Clinical & Healthcare
A data-driven consensus framework for Ct interpretation in real-world multi-assay qPCR diagnostics
J. Wang, J. Chen, B. Zhao, G. Zhang +3
While cycle threshold (Ct) values from quantitative PCR (qPCR) serve as the gold-standard indicators of target abundance, their clinical interpretation is frequently confounded by…
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medRxiv 🩻 Medical Imaging 🏥 Clinical & Healthcare
Artificial Intelligence-Based Detection of Airway Mucus Plugs on CT and Associations With Clinical Outcomes in COPDGene
J. Oyer, A. Namvar, B. A. Hoff, C. Bosma +7
RATIONALEAirway mucus plugging is a clinically relevant manifestation of airway pathology in chronic obstructive pulmonary disease (COPD) and is associated with increased…
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Abstract — source: medRxiv/bioRxiv · © authors · non-peer-reviewed preprint.