Autism spectrum disorder (ASD) is characterized by highly heterogenous abnormalities in functional brain connectivity affecting social behavior. There is a significant progress in understanding the molecular and genetic basis of ASD in the last decade using multi-omics approach. Mining this large volume of biomedical literature for insights requires considerable amount of manual intervention for curation. Machine learning and artificial intelligence fields are advancing toward simplifying data mining from unstructured text data. Here, we demonstrate our literature mining pipeline to accelerate data to insights. Using topic modeling and generative AI techniques, we present a pipeline that can classify scientific literature into thematic clusters and can help in a wide array of applications such as knowledgebase creation, conversational virtual assistant, and summarization. Employing our pipeline, we explored the ASD literature, specifically around multi-omics studies to understand the molecular interplay underlying autism brain.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590066 | PMC |
http://dx.doi.org/10.3389/fnins.2024.1400412 | DOI Listing |
Autism Res
January 2025
Center for Medical Genetics and Hunan key Laboratory of Medical Genetics, MOE Key Laboratory of Rare Pediatric Disease, School of Life Sciences, Central South University, Changsha, Hunan, China.
Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive.
View Article and Find Full Text PDFInt J Gynaecol Obstet
January 2025
Department of Obstetrics and Gynecology, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Background: Prematurity complications are a leading cause of mortality and morbidity in offspring, including adverse neurodevelopmental outcomes. The association between preterm birth (PTB) and autism spectrum disorder (ASD) remains debated.
Objective: To investigate the association between PTB and ASD diagnosis during childhood.
Mol Cell
January 2025
Institute of Biochemistry and Molecular Biology, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan. Electronic address:
Intrinsically disordered regions (IDRs) of proteins can regulate function through phase separation. In a recent article in Nature, Garcia-Cabau et al. reveal that including or excluding a microexon within the IDR of CPEB4 alters its condensation properties, suggesting a potential mechanism underlying autism spectrum disorder.
View Article and Find Full Text PDFJ Dev Behav Pediatr
January 2025
Department of Pediatrics and Norton Children's Research Institute, School of Medicine, University of Louisville, Louisville, KY.
Objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication differences and restricted interests. One proposed biologic mechanism underlying ASD is oxidative stress, leading to the clinical use of glutathione based on anecdotal reports of improved behavior in autistic children. In this pilot study, we tested this observation using a randomized clinical trial format to collect preliminary data on glutathione safety and efficacy.
View Article and Find Full Text PDFAfr J Disabil
December 2024
Department of Occupational Therapy, Faculty of Medicine and Health Science, Stellenbosch University, Cape Town, South Africa.
Background: Play is integral to optimal childhood development. Occupational therapists often use play to improve play skills. However, when it comes to learners with autism spectrum disorder (ASD) in South Africa, there is limited research regarding play-based interventions that address the underlying motivators of play, namely, social play and playfulness.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!