Autism

Digenic Analysis Finds Highly Interactive Genetic Variants Underlying Polygenic Traits.

We briefly review our recently published approach to mining digenic genotype patterns, which consist of two genotypes each originating in a different DNA variant. We do this for a genetic case-control study by evaluating all possible pairs of genotypes, distributing the workload over numerous CPUs (threads) in a high-performance computing environment and apply our methods to two known datasets, ag...

An intronic genetic variant of ZHX2 predicts response to pegylated interferon α therapy in HBeAg-positive chronic hepatitis B patients.

ZHX2 plays a crucial role in host immunity and modulates hepatitis B virus (HBV) replication. However, its correlation with immunomodulator-related treatment, i.g., pegylated interferon α(PegIFNα), for HBV remains uncertain. To explore the link between single nucleotide polymorphisms (SNPs) in ZHX2 and response to PegIFNα therapy for chronic hepatitis B (CHB) patients, we conducted a retrospective...

Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.

Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the immune system. Significant advances have been made in recent...

EGeRepDR: An enhanced genetic-based representation learning for drug repurposing using multiple biomedical sources.

MOTIVATION: Drug repurposing (DR) is an imminent approach for identifying novel therapeutic indications for the available drugs and discovering novel ...

Predicting Autism from Head Movement Patterns during Naturalistic Social Interactions.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized in part by difficulties in verbal and nonverbal social communication. E...

c-Diadem: a constrained dual-input deep learning model to identify novel biomarkers in Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD) is an incurable, debilitating neurodegenerative disorder. Current biomarkers for AD diagnosis require expensive n...

Early monitoring-to-warning Internet of Things system for emerging infectious diseases via networking of light-triggered point-of-care testing devices.

Early monitoring and warning arrangements are effective ways to distinguish infectious agents and control the spread of epidemic diseases. Current tes...

Learning Sequential Information in Task-based fMRI for Synthetic Data Augmentation.

Insufficiency of training data is a persistent issue in medical image analysis, especially for task-based functional magnetic resonance images (fMRI) ...

An automatic progressive chromosome segmentation approach using deep learning with traditional image processing.

The fully automatic chromosome analysis system plays an important role in the detection of genetic diseases, which in turn can reduce the diagnosis bu...

Applications for Deep Learning in Epilepsy Genetic Research.

Epilepsy is a group of brain disorders characterised by an enduring predisposition to generate unprovoked seizures. Fuelled by advances in sequencing ...

Machine Learning Differentiation of Autism Spectrum Sub-Classifications.

PURPOSE: Disorders on the autism spectrum have characteristics that can manifest as difficulties with communication, executive functioning, daily livi...

TranStutter: A Convolution-Free Transformer-Based Deep Learning Method to Classify Stuttered Speech Using 2D Mel-Spectrogram Visualization and Attention-Based Feature Representation.

Stuttering, a prevalent neurodevelopmental disorder, profoundly affects fluent speech, causing involuntary interruptions and recurrent sound patterns....

Clinical Feature Ranking Based on Ensemble Machine Learning Reveals Top Survival Factors for Glioblastoma Multiforme.

Glioblastoma multiforme (GM) is a malignant tumor of the central nervous system considered to be highly aggressive and often carrying a terrible survi...

Using ChatGPT to predict the future of personalized medicine.

Personalized medicine is a novel frontier in health care that is based on each person's unique genetic makeup. It represents an exciting opportunity t...

Novel tools for early diagnosis and precision treatment based on artificial intelligence.

Lung cancer has the highest mortality rate among all cancers in the world. Hence, early diagnosis and personalized treatment plans are crucial to impr...

Harnessing deep learning for population genetic inference.

In population genetics, the emergence of large-scale genomic data for various species and populations has provided new opportunities to understand the...

A longitudinal observational study on the epidemiology of painful procedures and sucrose administration in hospitalized preterm neonates.

Although sucrose is widely administered to hospitalized infants for single painful procedures, total sucrose volume during the entire neonatal intensi...

Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.

Genetic association studies have identified hundreds of independent signals associated with type 2 diabetes (T2D) and related traits. Despite these su...

Predicting transcriptional outcomes of novel multigene perturbations with GEARS.

Understanding cellular responses to genetic perturbation is central to numerous biomedical applications, from identifying genetic interactions involve...

Cytogenetics and genomics in pediatric acute lymphoblastic leukaemia.

The last five decades have witnessed significant improvement in diagnostics, treatment and management of children with acute lymphoblastic leukaemia (...