AIMC Topic: Machine Learning

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SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

NAR genomics and bioinformatics
Synonymous single nucleotide variants (sSNVs), traditionally seen as neutral, are now recognized for their biological impact. To assess their relevance, we developed SyMetrics, a framework that integrates predictors of splicing, RNA stability, evolut...

Skin disease diagnostics through federated transfer learning on heterogeneous data.

Scientific reports
Skin diseases frequently cause mental and physical distress and are major global health concern. Because early detection is crucial to successful treatment, accurate diagnosis is challenge for dermatologists as well. Diagnostic accuracy could be sign...

Pediatric diabetes prediction using machine learning.

Scientific reports
Diabetes is a chronic condition that affects a substantial portion of the global population and is linked to elevated mortality rates and a range of severe health complications. Despite its clinical importance, progress in diabetes research is often ...

Prompting and Fine-Tuning Large Language Models for Parkinson Disease Diagnosis: Comparative Evaluation Study Using the PPMI Structured Dataset.

JMIR medical informatics
BACKGROUND: Parkinson disease (PD) presents diagnostic challenges due to its heterogeneous motor and nonmotor manifestations. Traditional machine learning (ML) approaches have been evaluated on structured clinical variables. However, the diagnostic u...

Genetic relationships between the gut microbiota and prostate cancer: Mendelian randomization combined with bioinformatics analysis.

The aging male : the official journal of the International Society for the Study of the Aging Male
BACKGROUND: Prostate cancer (PCa) is a leading cause of male cancer-related death globally. While the gut microbiota is linked to PCa, its genetic association remains unclear.

Machine learning and multi-omics integration identifies immunological predictors and mechanistic insights in autoimmune encephalitis.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
OBJECTIVE: To develop an interpretable prognostic prediction model for autoimmune encephalitis (AE) using immunological indicators and to investigate the potential role of nucleophosmin (NPM1) in disease pathogenesis through multi-omics approaches.

Dynamic Ensemble Selection for Early Detection of Deep Vein Thrombosis in Fracture Patients.

Journal of medical systems
Deep vein thrombosis (DVT) in fracture patients is often clinically silent, with a high incidence of thrombosis and associated mortality. Static machine learning methods struggle to address the challenge of early DVT diagnosis due to their inability ...

PODiaCarD: a prototype of a digital twin platform for the management of pediatric obesity and related cardiometabolic complications.

European journal of pediatrics
UNLABELLED: Childhood obesity is the main driver of early metabolic risk, predisposing to cardiovascular disease (CVD) and type 2 diabetes (T2D), which cause millions of deaths worldwide. Their progression is influenced by biological, behavioral, and...

Machine learning models in predicting viability after testicular torsion: a proof of concept study.

Pediatric surgery international
PURPOSE: Decision-making for orchiectomy following testicular torsion often relies on subjective clinical evaluations. This study investigates the efficacy of machine learning (ML) models in objectively predicting post-torsion testicular viability, a...

Detection of parkinson's disease with neuroimaging modalities using machine learning and artificial intelligence: a systematic review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
The application of machine learning (ML) and artificial intelligence (AI) algorithms in medical imaging is an emerging area of interest, particularly in the context of clinical decision-making. Here, we report on the overall performance (i.e., sensit...