Neuroinformatics, Journal Year: 2025, Volume and Issue: 23(2)
Published: April 1, 2025
Language: Английский
Nucleic Acids Research, Journal Year: 2024, Volume and Issue: 52(W1), P. W540 - W546
Published: April 4, 2024
Abstract PubTator 3.0 (https://www.ncbi.nlm.nih.gov/research/pubtator3/) is a biomedical literature resource using state-of-the-art AI techniques to offer semantic and relation searches for key concepts like proteins, genetic variants, diseases chemicals. It currently provides over one billion entity annotations across approximately 36 million PubMed abstracts 6 full-text articles from the PMC open access subset, updated weekly. 3.0's online interface API utilize these precomputed relations synonyms provide advanced search capabilities enable large-scale analyses, streamlining many complex information needs. We showcase retrieval quality of series pair queries, demonstrating that retrieves greater number than either or Google Scholar, with higher precision in top 20 results. further show integrating ChatGPT (GPT-4) APIs dramatically improves factuality verifiability its responses. In summary, offers comprehensive set features tools allow researchers navigate ever-expanding wealth literature, expediting research unlocking valuable insights scientific discovery.
Language: Английский
Citations
39
Translational Psychiatry, Journal Year: 2024, Volume and Issue: 14(1)
Published: June 1, 2024
Abstract Mapping brain-behaviour associations is paramount to understand and treat psychiatric disorders. Standard approaches involve investigating the association between one brain behavioural variable (univariate) or multiple variables against brain/behaviour feature (‘single’ multivariate). Recently, large multimodal datasets have propelled a new wave of studies that leverage on ‘doubly’ multivariate capable parsing multifaceted nature both behaviour simultaneously. Within this movement, canonical correlation analysis (CCA) partial least squares (PLS) emerge as most popular techniques. Both seek capture shared information in form latent variables. We provide an overview these methods, review literature disorders, discuss main challenges from predictive modelling perspective. identified 39 across four diagnostic groups: attention deficit hyperactive disorder (ADHD, k = 4, N 569), autism spectrum disorders (ASD, 6, 1731), major depressive (MDD, 5, 938), psychosis (PSD, 13, 1150) transdiagnostic group (TD, 11, 5731). Most (67%) used CCA focused either morphology, resting-state functional connectivity fractional anisotropy symptoms and/or cognition. There were three findings. First, diagnoses link clinical/cognitive two measures, namely frontal morphology/brain activity white matter fibres (tracts cortical areas same hemisphere). Second, typically less investigated models such physical health (e.g., BMI, drug use) clinical history childhood trauma) important features. Finally, at risk bias due low sample size/feature ratio in-sample testing only. highlight importance carefully mitigating sources with exemplar application CCA.
Language: Английский
Citations
19
Nature Mental Health, Journal Year: 2024, Volume and Issue: 2(3), P. 287 - 298
Published: Jan. 10, 2024
Language: Английский
Citations
13
Biological Psychiatry, Journal Year: 2024, Volume and Issue: 96(6), P. 422 - 434
Published: Jan. 26, 2024
Language: Английский
Citations
9
Journal of Pharmacology and Experimental Therapeutics, Journal Year: 2025, Volume and Issue: 392(3), P. 103391 - 103391
Published: Jan. 20, 2025
Language: Английский
Citations
1
Molecular Psychiatry, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 24, 2025
Abstract Genetic variants linked to autism are thought change cognition and behaviour by altering the structure function of brain. Although a substantial body literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic changes cortical macro- micro-structure. We investigated this using neuroimaging data from adults (UK Biobank, N = 31,748) children (ABCD, 4928). Using polygenic scores correlations we observe robust negative association between for magnetic resonance imaging derived phenotype neurite density (intracellular volume fraction) general population. This result consistent across both adults, cortex white matter tracts, confirmed correlations. There were no sex association. Mendelian randomisation analyses provide evidence causal relationship intracellular fraction, although should be revisited better powered instruments. Overall, study provides shared variant genetics density.
Language: Английский
Citations
1
Developmental Cognitive Neuroscience, Journal Year: 2025, Volume and Issue: 73, P. 101547 - 101547
Published: March 13, 2025
Longitudinal neuroimaging studies conducted over the past decade provide evidence of atypical visual system development in first years life autism spectrum disorder (ASD). Findings from genomic analyses, family studies, and postmortem investigations suggest that changes ASD are linked to genetic factors, making an important neural phenotype along path genes behavior deserves further study. This article reviews what is known about developing life; it also explores potential canalizing role maturation may have emergence by placing findings context developmental cascades involving brain development, attention, social cognitive development. Critical gaps our understanding human discussed, future research directions proposed improve as a complex neurodevelopmental with origins early
Language: Английский
Citations
1
Journal of Neurodevelopmental Disorders, Journal Year: 2025, Volume and Issue: 17(1)
Published: April 28, 2025
Abstract Background Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral cognitive domains, a longitudinal sample followed from infancy enriched those with genetic liability ASD. Methods Resting state connectivity MRIs (fcMRI) data were analyzed 97 school-age children (8.1–12.0 years, 55 males, 15 ASD) ( n = 63) or without 34) family history fcMRI enrichment analysis (EA) was used to screen associations between network-level six behaviors interest data-driven manner: social affect, restricted repetitive (RRB), generalized anxiety, inattention, motor coordination, matrix reasoning. Results Functional the visual salience networks significantly affect symptoms after all other behaviors. indicated that stronger higher scores. No robustly connectivity, though trends observed visual-salience RRBs. Conclusions Connectivity may play an important role symptom variability among These findings align extend earlier reports this central system during
Language: Английский
Citations
1
Frontiers in Neurology, Journal Year: 2023, Volume and Issue: 14
Published: Sept. 7, 2023
Individuals with autism spectrum disorder (ASD) exhibit a diverse range of behavioral features and genetic backgrounds, but whether different forms involve convergent pathophysiology brain function is unknown. Here, we analyze evidence for deficits in neural circuit across multiple transgenic mouse models ASD. We focus on sensory areas neocortex, where differences may underlie atypical processing, central feature autism. Many distinct circuit-level theories ASD have been proposed, including increased excitation–inhibition (E–I) ratio hyperexcitability, hypofunction parvalbumin (PV) interneuron circuits, impaired homeostatic plasticity, degraded coding, others. review these assess the degree convergence each. Behaviorally, our analysis reveals that innate detection behavior heightened discrimination many models. Neurophysiologically, PV E–I are prevalent only rarely generate hyperexcitability excess spiking. Instead, tuning other aspects coding commonly explain behavior. Two phenotypic clusters opposing signatures evident Such clustering could suggest physiological subtypes autism, which facilitate development tailored therapeutic approaches.
Language: Английский
Citations
14
Communications Biology, Journal Year: 2024, Volume and Issue: 7(1)
Published: Jan. 25, 2024
Abstract Recent research suggests that autistic females may have superior socio-cognitive abilities compared to males, potentially contributing underdiagnosis in females. However, it remains unclear whether these differences arise from distinct neurophysiological functioning males and This study addresses this question by presenting 41 48 non-autistic adults with a spatially filtered faces oddball paradigm. Analysis of event-related potentials scalp electroencephalography reveal profile fell between those females, highlighting sex autism the initial stages face processing. finding underscores urgent need explore encourages efforts toward better comprehension compensation mechanism clearer definition what is meant camouflaging.
Language: Английский
Citations
6