Practice Management

Diagnostic Codes in AI prediction models and Label Leakage of Same-admission Clinical Outcomes

Artificial intelligence (AI) and statistical models designed to predict same-admission outcomes for hospitalized patients, such inpatient mortality, often rely on International Classification of Disease (ICD) diagnostic codes, even when these codes are not finalized until after hospital discharge. Investigate the extent to which the inclusion of ICD codes as features in predictive models inflates ...

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

Anophthalmia and microphthalmia (A/M) are rare congenital eye disorders with a low molecular diagnosis rate, which limits clinical management and genetic counselling. Improved detection and interpretation of pathogenic variants is essential for advancing diagnosis and care in affected individuals. To improve the molecular diagnostic yield in A/M patients by refining the methodology of variant inve...

Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank

Scoliosis is the most common developmental spinal deformity, but its genetic underpinnings remain only partially understood. To enhance the identifica...

Large language models for automatable real-world performance monitoring of diagnostic decision support systems: a comparison to manual doctor panel review in a prospective clinical study

Diagnostic decision support systems (DDSS) are increasingly deployed at scale, yet their diagnostic accuracy is insufficiently monitored once integrat...

Privacy-preserving local language models accurately identify the presence and timing of self-harm in electronic mental health records

Self-harm, defined as intentional self-injury or self-poisoning irrespective of motivation, is the strongest risk factor for suicide and an important ...

Premature Ventricular Contraction-Mediated Ventricular Fibrillation: Clinical characteristics, Application of Machine-Learning Algorithm and Outcomes of Catheter Ablation: Multicentric Case Series

Premature ventricular contractions (PVCs) are common in patients with and without structural heart disease. In a subset of patients, PVCs are associat...

Clinical Agents Don’t Care

Large language models (LLMs) now power clinical agents that can plan, call tools, and write into electronic health records (EHRs). They are becoming a...

Predicting Carbapenem Resistance in Hospitalized Patients Using Machine Learning: A Retrospective Analysis of the MIMIC-III Database

Carbapenem-resistant Gram-negative bacteria (CR-GNB) represent a major health challenge due to limited therapeutic options, increased morbidity, and e...

MAX-EVAL-11: A Comprehensive Benchmark for Evaluating Large Language Models on Full-Spectrum ICD-11 Medical Coding

MAX-EVAL-11 is constructed by converting MIMIC-III discharge summaries from ICD-9 to ICD-11 codes through systematic mapping, creating a synthetic dia...

Comparing computable structured phenotype- versus large language model-identification of opioid use disorder using electronic health record data

Opioid use disorder (OUD) is common in emergency departments (EDs); identification via structured computable phenotypes may miss important clinical co...

Assessment of fatal cardiovascular disease risk using data-driven diabetes subgroups and SCORE2-Diabetes in 24,943 adults in Mexico City

Cardiovascular disease (CVD) is a leading cause of diabetes-related mortality in Mexico. Although diabetes subgroups capture underlying disease hetero...

Enhanced Detection Rate of AI for Lung Cancer Detection on GP-Referred Chest X-rays: A Real-World Retrospective Evaluation

To assess whether an artificial intelligence (AI) chest radiograph (CXR) tool could enhance lung cancer detection on primary care–referred CXRs in the...

Large Language Models for Thematic Analysis in Healthcare Research: A Blinded Mixed-Methods Comparison with Human Analysts

Large language models (LLMs) are increasingly used for qualitative thematic analysis, yet evidence on their performance in analysing focus-group data,...

Machine Learning and Micro Capture-C resolve GWAS associations revealing endothelial stress pathways in Coronary Artery Disease

Resolving the gene targets of non-coding genetic variation is the major bottleneck in translating genome wide association studies into mechanistic und...

Human Phenotype Ontology (HPO) Mapper: Semantic Mapping of Clinical Findings to the Human Phenotype Ontology Using AI-Powered Embeddings and LLM-Based Quality Control

Structured phenotypic annotations linked to genetic data can drive diagnostic insight and therapeutic discovery in complex diseases. However, poor res...

Evaluating large language models for natural-language-to-code generation on aggregate Czech public health data analysis

Large language models (LLMs) are increasingly explored as tools for healthcare research and data analysis. However, their applicability to structured ...

TS-Resformer: a model based on multimodal fusion for the classification of music signals.

The number of music of different genres is increasing year by year, and manual classification is costly and requires professionals in the field of mus...

Unveiling Long Non-coding RNA Networks from Single-Cell Omics Data Through Artificial Intelligence.

Single-cell omics technologies have revolutionized the study of long non-coding RNAs (lncRNAs), offering unprecedented resolution in elucidating their...

Using Natural Language Processing and Machine Learning to classify the status of kidney allograft in Electronic Medical Records written in Spanish.

INTRODUCTION: Accurate identification of graft loss in Electronic Medical Records of kidney transplant recipients is essential but challenging due to ...

Graph Cut-guided Maximal Coding Rate Reduction for Learning Image Embedding and Clustering

In the era of pre-trained models, image clustering task is usually addressed by two relevant stages: a) to produce features from pre-trained vision ...