Neurology

Autism

Latest AI and machine learning research in autism for healthcare professionals.

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Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

Rare genetic aortopathies are frequently undiagnosed due to phenotypic heterogeneity, and delayed di...

From Sequences to Strategies: Early Detection of New SARS-CoV-2 Variants via Genetic Distance to Reduce Hospitalizations

The COVID-19 pandemic highlighted the critical need for robust methods to monitor viral evolution an...

Scalable Deep Learning of Histology Images Reveals Genetic and Phenotypic Determinants of Adipocyte Hypertrophy

White adipose tissue dysfunction has emerged as a critical factor in cardiometabolic disease develop...

Advancing Human Population Genomics with DNA Foundation Models

DNA foundation models offer a new approach to interpret genetic variation, but their potential in po...

VarDrug: A Machine Learning Approach for Variant-Drug Interaction, Application to Drugs for Psychiatric Disorders

Predicting variant-drug interactions is essential for advancing precision medicine across therapeuti...

Epistatic contributions to human traits via transcription factor mechanisms

Epistasis causes an individual’s genetic background to modulate a DNA variant’s effect on trait [1–6...

aiDIVA – Diagnostics of Rare Genetic Diseases Using Large Language Models

Genome sequencing (GS) enables the accurate identification of genetic variants in most genomic regio...

Large-scale Proteomics Profiling of Peripheral Blood of DM1 patients identifies biomarkers for disease severity and functional capacity

Myotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses sig...

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 on...

Automated Deep Learning-Based Detection of Early Atherosclerotic Plaques in Carotid Ultrasound Imaging

Carotid plaque presence is associated with cardiovascular risk, even among asymptomatic individuals....

Advanced Deep Learning Architecture for the Early and Accurate Detection of Autism Spectrum Disorder Using Neuroimaging

Autism Spectrum Disorder (ASD) is a neurological condition that affects the brain, leading to challe...

Artificial Intelligence in Early Detection of Autism Spectrum Disorder for Preschool ages: A Systematic Literature Review

Early detection of autism spectrum disorder (ASD) improves outcomes, yet clinical assessment is time...

Early Prediction of Gestational Diabetes Using Integrated Cell-free DNA Features and Omics-derived Genetic Scores

Gestational diabetes mellitus (GDM) affects 15.6% of pregnancies globally, with Vietnam exhibiting o...

Novel Epistatic Interaction Between RBMS3 and CDKN2B-AS1 in Coronary Artery Disease Risk Identified by Machine Learning Tool VariantSpark

Genome-wide association studies (GWAS) of coronary artery disease (CAD), the leading cause of mortal...

Clinical trials in depression: Integrated collection across EU and US registries

Depression affects millions worldwide with both pharmacological and psychological therapies widely a...

Speech Acoustic Markers Detect APOE-ε4 Carrier Status in Cognitively Healthy Individuals

APOE-ε4, the strongest genetic risk factor for Alzheimer’s disease (AD), is linked to early motor vu...

Multimodal AI for Precision Preventive Cardiology

Coronary artery disease (CAD) is the leading cause of death worldwide, yet it is highly preventable....

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