Latest AI and machine learning research in autism for healthcare professionals.
Genome sequencing (GS) enables the accurate identification of genetic variants in most genomic regions and is rapidly transforming routine diagnostics for rare diseases (RD). While streamlined data generation is scalable, efficient prioritization and correct clinical interpretation of detected alterations remain a challenge, often requiring manual classification by experts with years of training. ...
Myotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses significant challenges for drug development due to its multisystem nature and high clinical variability in symptoms and disease progression. With a growing number of therapies entering clinical trials, this study addresses the urgent need for biomarkers that can serve as surrogate endpoints. We profile...
Scoliosis is the most common developmental spinal deformity, but its genetic underpinnings remain only partially understood. To enhance the identifica...
Carotid plaque presence is associated with cardiovascular risk, even among asymptomatic individuals. While deep learning has shown promise for carotid...
Neurological development between the ages of 3 to 11 is crucial to the shaping of infrastructural capabilities like the executive functions that enabl...
Autism Spectrum Disorder (ASD) is a neurological condition that affects the brain, leading to challenges in speech, communication, social interaction,...
Early detection of autism spectrum disorder (ASD) improves outcomes, yet clinical assessment is time-intensive. Artificial intelligence (AI) may suppo...
The public health impact of vaping in the United States reflects a complex balance of potential benefits and emerging risks. While e-cigarettes can su...
Gestational diabetes mellitus (GDM) affects 15.6% of pregnancies globally, with Vietnam exhibiting one of the highest prevalences at 21%. Current diag...
Opioids are a widely prescribed class of medication for pain management. However, they have variable efficacy and adverse effects among patients, due ...
Parent/patient-reported datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders yet their concordance with clinica...
Genome-wide association studies (GWAS) of coronary artery disease (CAD), the leading cause of mortality and morbidity globally, have identified approx...
Depression affects millions worldwide with both pharmacological and psychological therapies widely applied, both with limited treatment success. Many ...
APOE-ε4, the strongest genetic risk factor for Alzheimer’s disease (AD), is linked to early motor vulnerability, including subtle speech control chang...
Coronary artery disease (CAD) is the leading cause of death worldwide, yet it is highly preventable. Early detection is critical, particularly because...
Dementia in Lewy body diseases (LBD) is common and arises through heterogeneous and incompletely understood pathways. Evidence suggests contributions ...
Despite the identification of >700 genes linked to rare and inherited kidney diseases (IKD), many individuals with presumed IKD do not receive a diagn...
Pediatric brain tumors are the leading cause of cancer death in children, with surgical resection critical for survival and neurodevelopment. Intraope...
We previously developed the Evaluation of Autism Gene Link Evidence (EAGLE) manual curation framework and used it to characterise 219 autism-associate...
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and syndromic autism, but diagnosis remains challenging due to ...