Autism

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Weiss-Kruszka syndrome (WSKA; OMIM 618619) is a rare autosomal dominant neurodevelopmental disorder caused by haploinsufficiency of ZNF462, a zinc-finger transcription factor involved in chromatin regulation and early embryonic development. WSKA is characterized by developmental delay, hypotonia, craniofacial dysmorphic features (around 8) and variable congenital anomalies. Genome-wide DNAm profil...

A feature-efficient dual-task machine learning framework for predicting bone mineral density and osteoporosis stratification in resource-constrained environments.

Osteoporosis is a chronic skeletal disorder characterized by progressive bone mineral density (BMD) loss and structural deterioration, significantly increasing fracture risk. Despite its high prevalence, early detection remains challenging due to its asymptomatic progression and the limitations of conventional diagnostic techniques, such as Dual-Energy X-ray Absorptiometry (DXA). While DXA remains...

Design and Analysis of Emotion Elicitation Techniques for ECG-Based Emotion Recognition in Children with Autism Spectrum Disorder (ASD).

Children with autism spectrum disorder (ASD) face difficulties in expressing and recognizing emotions resulting in meltdowns and aggressive situations...

Integrating omics and artificial intelligence in pediatric environmental health: tools, challenges, and cohort-based insights.

BACKGROUND: Early childhood is a critical developmental period during which exposure to multiple environmental chemicals is common and increasingly re...

The evolving bioinformatic approaches to identifying genetic targets of promise in cancers.

INTRODUCTION: The search for actionable genetic targets in cancer has evolved substantially over the past decade. Earlier approaches were focused on s...

PumpKin: A machine-learning pipeline for automatically tracking localized kinematics in freely moving C. elegans.

One of the many goals of neuroscience is to understand how the brain encodes and transforms sensory information into behavior. These animal behaviors ...

First-episode psychosis and mood disorder onset in individuals with epilepsy.

BACKGROUND: Psychiatric disorders represent a major burden for patients with epilepsy (PwE). This study examined how demographic, epilepsy-related, an...

Genetic algorithm-guided sample design enables efficient machine learning-driven optimization of tauroursodeoxycholic acid production in engineered Escherichia coli.

Data-driven machine learning (ML) approaches offer powerful tools for modeling and optimizing complex fermentation processes, yet their application is...

The Spanish Atherosclerosis Society Dyslipidaemia Registry: Evolution, real-world evidence, and its role in precision medicine. Current status in 2026.

INTRODUCTION: The National Dyslipidemia Registry of the Spanish Atherosclerosis Society (SEA) represents a major source of real-world evidence on lipi...

The future of pediatric gene therapy: CRISPR-Cas9, AI, and personalized medicine.

The future of pediatric gene therapy is being fundamentally reshaped by the convergence of CRISPR-Cas9 genome editing, artificial intelligence (AI), a...

Biosensor-Based Detection and Quantification of Arsenic in Drinking Water.

Arsenic contamination of drinking water remains a persistent global health burden and an environmental justice challenge, particularly for low-resourc...

BoltzOmics: Predicting genetic variant effects on drug binding with Boltz-2.

A mechanistic understanding of how genetic variants alter drug-receptor binding is central to precision medicine, drug response prediction, and drug d...

Calibration-aware genomic prediction of paratuberculosis serostatus in indigenous Turkish goats.

Paratuberculosis, caused by Mycobacterium avium subsp. paratuberculosis (MAP), is a chronic, incurable enteritis of ruminants in which late-onset clin...

Popformer: Learning general signatures of positive selection with a self-supervised transformer.

Understanding natural selection can help shed light on the genetics underpinning adaptive evolution. The widespread availability of large-scale human ...

Metrics Used for the Evaluation of Chatbots Providing Cancer Genetic Risk Assessment and Education: Systematic Review.

BACKGROUND: Chatbots have recently emerged as an alternative approach for delivering cancer risk assessment and genetic counseling. Understanding the ...

An encyclopedia of human enhancer-gene regulatory interactions.

Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the effect of human genetic variation ...

Neurophysiological EEG Characterization of Autism Spectrum Disorder Using DWT-Based Frequency Analysis With Selective Electrodes and Brain Segmentation: An Explainable AI-Driven Approach.

Autism Spectrum Disorder (ASD) diagnosis benefits from the technical analysis of neural oscillations. The objective identification of Autism Spectrum ...

Artificial Intelligence in Neonatal Care: The Breadth of Promise, the Depth of Challenge-An Overview.

Artificial intelligence (AI) is becoming an integral tool in clinical care. The recent position statement by the Royal Australasian College of Physici...

Machine Learning-Based Identification of Craniosynostosis From Nonsynostotic Cranial Deformities.

ObjectiveCraniosynostosis, the premature fusion of cranial sutures, affects 5.2 cases per 10,000 live births and can result in impaired neurodevelopme...

Integrative multi-omics reveals MHC class II-mediated neuroinflammation and systemic metabolic dysregulation as transdiagnostic drivers in major brain disorders.

Psychiatric, neurodevelopmental, and neurodegenerative disorders, including Alzheimer's disease (AD), attention-deficit/hyperactivity disorder (ADHD),...