Neurology

Autism

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

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Geometric Brain Signatures for Diagnosing Rare Hereditary Ataxias and Predicting Function

Hereditary cerebellar ataxias (HCAs) are rare neurodegenerative disorders characterised by progressi...

Uncovering genetic mechanisms underlying trait variation in switchgrass using explainable artificial intelligence

Uncovering the genetic architecture of quantitative traits is challenging because polygenic control ...

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....

Extending 2D foundational DINOv3 representations to 3D segmentation of neonatal brain MR images

Precise volumetric delineation of hippocampal structures is essential for quantifying neurodevelopme...

Development of a Multi-Trait Polygenic Score for Intrinsic Capacity

Background: Intrinsic capacity (IC) is a key marker of healthy ageing, which captures an individuals...

Deep genomic models of allele-specific measurements

Allele-specific quantification of sequencing data, such as gene expression, allows for a causal inve...

AI predicted TCR-pMHC structures differentiate immune interactions

The T Cell Receptor (TCR) is a highly variable component of the T cell immune response that recogniz...

Learning lifetime disease liability reveals and removes genetic confounding in electronic health records

Electronic health records (EHRs) have become the cornerstone of population-scale genetic studies1, b...

Deep Agentic Variant Prioritisation for Expert Level Genetic Diagnosis Fast at Scale

Abstract. Genetic diagnosis remains a formidable challenge characterized by a diagnostic odyssey tha...

RosetteArray Platform for Quantitative High-Throughput Screening of Human Neurodevelopmental Risk

Neural organoids have revolutionized how human neurodevelopmental disorders (NDDs) are studied. Yet,...

Application of Explainable AI in Neuroscience: Enhancing Autism Screening

The main challenges in the life of a child with autism are difficulties in communication, behavior, ...

Trisomy 21 impairs synchronized activity and connectivity in developing human Down syndrome cortical excitatory neuron networks

Down syndrome (DS) is the most common genetic cause of intellectual disability, affecting one in 700...

Development and validation of neurological health score using machine learning algorithms

Neurological health score (NHS), indicating the health of brain and nervous system, helps in identif...

Genetic variation shapes human mRNA translation and disease risk

Genetic variation can influence protein abundance through translation, yet this regulatory layer rem...

Structural phenotypes of osteoarthritis are clinically and genetically distinct: findings from 59,539 UK Biobank participants

OBJECTIVES Osteoarthritis is a heterogeneous disease, with diverse structural patterns likely reflec...

Designing AI-programmable therapeutics with the EDEN family of foundation models

The ability to interpret, modify, and design DNA has driven many of the most significant advances in...

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