Neurology

Autism

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

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A Transparent and Generalizable Deep Learning Framework for Genomic Ancestry Prediction

Accurately capturing genetic ancestry is critical for ensuring reproducibility and fairness in genomic studies and downstream health research. This study aims to address the prediction of ancestry from genetic data using deep learning, with a focus on generalizability across datasets with diverse populations and on explainability to improve model transparency. We adapt the Diet Network, a deep lea...

Alzheimer’s subtypes A supervised, unsupervised, multimodal, multilayered embedded recursive (SUMMER) AI study

Since Alzheimer’s disease (AD) is a heterogeneous disease, different subtypes may have distinct biological, genetic, and clinical characteristics, requiring tailored interventions. While several proposed subtypes of AD exist, there is still no clear consensus on a definitive classification. By leveraging complementary AI approaches, including supervised and unsupervised learning, within a recursiv...

Automated analysis of C. elegans behavior by LabGym: an open-source, AI-powered platform

The genetic tractability, well-mapped circuitry, and diverse behavioral repertoire of the nematode C. elegans make it an ideal model for physiological...

Language network functional connectivity in infancy predicts developmental language trajectories

Although developmental language delays affect approximately 10% of children in the general population, the neurodevelopmental mechanisms that support ...

Ensemble AnalySis with Interpretable Genomic Prediction (EasiGP): Computational Tool for Interpreting Ensembles of Genomic Prediction Models

Ensemble of multiple genomic prediction models have grown in popularity due to consistent prediction performance improvements in crop breeding. Howeve...

Gene Specific Pathogenicity Predictor for Chromatin-Remodeling BAF Complex-Associated Neurodevelopmental Disorders

Advancements in whole genome sequencing have increased the number of variants of uncertain significance (VUS) identified in patient genomes. This has ...

Uncovering genetic architecture of the heart via genetic association studies of unsupervised deep learning derived endophenotypes

Recent genome-wide association studies (GWAS) have effectively linked genetic variants to quantitative traits derived from time-series cardiac magneti...

Botanic Spectrum Analyser: A Deep Learning GUI for Plant Image Segmentation in Hyperspectral and RGB Phenotyping

Plant phenotyping systematically quantifies plant traits such as growth, morphology, physiology, or yield, assessing genetic and environmental influen...

Mapping Risk and Conservation Potential Across the Indo-Pacific with Reefshark Genomescapes

Overfishing has severely depleted marine populations worldwide, including within protected areas. Illegal and unreported fishing are major contributor...

Neurotype matching in monogamous rodents is modulated by early-life sleep experience

Studies of human sociability indicate stronger social affinity in matched-neurotype dyads (e.g., two individuals with autism or two without) compared ...

Claustrum volume in humans – lifespan trajectory and effect of age, hemisphere, and sex

The human claustrum is a bilateral, thin, irregularly shaped gray matter structure located between the striatum and insula. While previous research de...

Variant-resolved prediction of context-specific isoform variation with a graph-based attention model

In eukaryotes, most genes produce multiple transcript isoforms that diversify the transcriptome and proteome, serving as a key mechanism of functional...

JAX Animal Behavior System (JABS): A genetics informed, end-to-end advanced behavioral phenotyping platform for the laboratory mouse

Automated detection of complex animal behavior remains a challenge in neuroscience. Developments in computer vision have greatly advanced automated be...

vcfsim: flexible simulation of all-sites VCFs with missing data

VCFs are the most widely used data format for encoding genetic variation. By design, standard VCFs do not include data from sites where all individual...

A Novel 3D Visualization Method in Mice Identifies the Periportal Lamellar Complex (PLC) as a Key Regulator of Hepatic Ductal and Neuronal Branching Morphogenesis

The liver’s microenvironment consists of interconnected vascular, biliary, and neural networks that regulate homeostasis and disease progression. Howe...

Generative design of synthetic gene circuits for functional and evolutionary properties

In the past decades, a wide suite of design tools for biological systems have been developed, but using these to create biotechnologies that achieve r...

Structured Multimodal Deep Learning improves Genomic Prediction in Future Environments

The development of prediction models for phenotypes as functions of genetics and environmental inputs is a long-standing challenge in genetics and pla...

A Genomic Language Model for Zero-Shot Prediction of Promoter Variant Effects

Disease-associated genetic variants occur extensively in noncoding regions like promoters, but current methods focus primarily on single nucleotide va...

Quantifying the impact of genetic mutations on enhancer dynamics

Transcriptional regulation is mediated by enhancers, yet how genetic perturbations alter enhancer activity and gene expression remains poorly understo...

MAP-PRS: Multi-Ancestry Portfolio-Based Polygenic Risk Scores

Polygenic Risk Scores (PRS) are emerging tools for predicting an individual’s genetic risk for complex diseases. However, their usefulness in clinical...

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