Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Experiment Overall Design: Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD)

2008-10-18 | E-GEOD-6575 | biostudies-arrayexpress

RNA-seq of 36 individuals with autism spectrum disorder

Project description:To assess the clinical impact of splice-altering noncoding mutations in autism spectrum disorder (ASD), we used a deep learning framework (SpliceAI) to predict the splice-altering potential of de novo mutations in 3,953 individuals with ASD from the Simons Simplex Collection. To validate these predictions, we selected 36 individuals that harbored predicted de-novo cryptic splice mutations; each individual represented the only case of autism within their immediate family. We obtained peripheral blood-derived lymphoblastoid cell lines (LCLs) and performed high-depth mRNA sequencing (approximately 350 million 150 bp single-end reads per sample). We used OLego to align the reads against a reference created from hg19 by substituting de novo variants of each individual with the corresponding alternate allele.

2018-11-25 | E-MTAB-7351 | biostudies-arrayexpress

MicroRNA biomarkers in blood for Autism spectrum disorder

Project description:Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. MicroRNAs (miRNAs) have been recently recognized as potential biomarkers of ASD as they are dysregulated in various tissues of individuals with ASD. However, it remains unclear whether miRNA expression is altered in individuals with high-functioning ASD. Here, we investigated the miRNA expression profile in peripheral blood from adults with high-functioning ASD, and age and gender-matched healthy controls. Our findings may provide insights regarding the molecular clues for recognizing high-functioning ASD.

2020-05-03 | GSE89596 | GEO

Affymetrix CytoScan HD for autism spectrum disorder in children

Project description:Affymetrix CytoScan HD for autism spectrum disorder in children

| PRJNA472953 | ENA

RNA-seq of 36 individuals with autism spectrum disorder

Project description:RNA-seq of 36 individuals with autism spectrum disorder

| PRJEB29726 | ENA

Structural Variation of Chromosomes in Autism Spectrum Disorder.

Project description:Chromosomal abnormalities have been identified in some individuals with Autism Spectrum Disorder (ASD), but their full etiologic role is unknown. Submicroscopic copy number variation (CNV) represents a considerable source of genetic variation in the human genome that contributes to phenotypic differences and disease susceptibility. To explore the contribution CNV imbalances in ASD, we genotyped unrelated ASD index cases using the Affymetrix GeneChip® 500K single nucleotide polymorphism (SNP) mapping array. Keywords: Whole Genome Mapping SNP Genotyping Array

2007-12-20 | GSE9222 | GEO

Comprehensive exosomal miRNA profile and construction of ceRNA network in autism spectrum disorder

Project description:Exosomes have been demonstrated to exert momentous roles in autism spectrum disorder (ASD). In this study, we aimed to make contribution to understanding pathogenesis of ASD and screen for the potential biomarkers associated with the occurrence and development of ASD.

2024-03-27 | GSE222046 | GEO

Consequences of postnatal Tshz3 deletion: implications for autism spectrum disorder

Project description:Consequences of postnatal Tshz3 deletion: implications for autism spectrum disorder

| PRJNA490337 | ENA