Latest AI and machine learning research in autism for healthcare professionals.
Background: Intrinsic capacity (IC) is a key marker of healthy ageing, which captures an individuals physical and mental capacities, measured across five domains: cognitive, locomotor, psychological, vitality, and sensory. Although genetic factors are known to influence both general IC and its individual domains, existing IC indices have been developed primarily using phenotypic data, without acco...
Allele-specific quantification of sequencing data, such as gene expression, allows for a causal investigation of how DNA sequence variations influence cis gene regulation. Current methods for analyzing allele-specific measurements for causal analysis rely on statistical associations between genetic variation across individuals and allelic imbalance. Instead, we propose DeepAllele, a novel deep lea...
In 2024, approximately 30% of U.S. adolescents reported having consumed alcohol at least once in their lifetime, with about 25% of these individuals e...
The T Cell Receptor (TCR) is a highly variable component of the T cell immune response that recognizes unique epitopes presented on MHC molecules (pMH...
Graph foundation models have emerged as powerful tools for drug repurposing by enabling the prediction of novel drug-disease indications from large bi...
Electronic health records (EHRs) have become the cornerstone of population-scale genetic studies1, but factors including patterns of healthcare use sh...
Abstract. Genetic diagnosis remains a formidable challenge characterized by a diagnostic odyssey that spans years, with over half of rare disease pati...
Sodium azide mutagenesis offers a powerful approach to generate genetic diversity for rice improvement, yet comprehensive characterization of mutant p...
Cognitive function, psychological processes, mental states, and behaviors are key dimensions of human subjective experience that separately relate to ...
Neural organoids have revolutionized how human neurodevelopmental disorders (NDDs) are studied. Yet, their utility for screening chemical hazards and ...
Heart failure with preserved ejection fraction (HFpEF) is an increasingly common cause of morbidity and mortality in older adults that is driven by ca...
The main challenges in the life of a child with autism are difficulties in communication, behavior, and social interaction. Early diagnosis of this ne...
Down syndrome (DS) is the most common genetic cause of intellectual disability, affecting one in 700 live births worldwide, and is caused by trisomy o...
Autism Spectrum Disorder (ASD) is a heterogenous condition that has no biologically relevant subtypes yet. Here, we utilized a multidimensional approa...
Fanconi anemia (FA) is a rare genetic disorder of impaired DNA repair characterized by progressive bone marrow failure, congenital malformations, and ...
Neurological health score (NHS), indicating the health of brain and nervous system, helps in identifying high risk individuals, and in recommending li...
Genetic variation can influence protein abundance through translation, yet this regulatory layer remains poorly defined. We developed a deep learning ...
OBJECTIVES Osteoarthritis is a heterogeneous disease, with diverse structural patterns likely reflecting distinct genetic drivers. Robust, data-driven...
The ability to interpret, modify, and design DNA has driven many of the most significant advances in modern medicine, from diagnostics, biologics, and...
Kabuki syndrome (KS) and Wiedemann-Steiner syndrome (WSS) are rare but distinct developmental disorders that share overlapping clinical features, incl...