Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA171534 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Copy number variation in fetal alcohol spectrum disorder
| PRJNA398332 | ENA
Project description:Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with = 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. Keywords: Autism spectrum disorder, Affymetrix SNP genotyping, linkage analysis, copy number analysis, chromosomal rearrangements.
2007-02-20 | GSE6754 | GEO
Project description:Rare DNA copy-number variation (CNV) plays an important role in the underlying genetic etiology of autism and intellectual disability. Although large numbers of copy-number variants (CNVs) have been recently implicated in autism, most are large affecting many genes and specificity of these lesions with respect to classically defined autism as opposed to more broadly defined developmental delay is unclear. We exploited the repeat architecture of the genome to target smaller regions (n=1340 hotspots, median size 15 kbp) flanked by repetitive sequence among 2,240 autism simplex patients and a subset of unaffected parents.
2012-09-30 | GSE39655 | GEO
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
Project description:Structural Variation of Chromosomes in Autism Spectrum Disorder.
| PRJNA102819 | ENA
Project description:Autism spectrum disorder (ASD) is an innate neurodevelopmental disorder characterized by impairments in social communication/interaction, repetitive and restrictive behavior. Copy number variation (CNV) is a one of the structural variation of the genomic sequence, including large multiplications and deletions ranging from kb to Mb of DNA. These multiplication-deletion provide genomic diversity, while CNV affects the amount of gene products or transcriptional regulation, and result in strong association with biological process, metabolism and disease. In facts, many studies reported that the mapping of CNVs which strongly associated with ASD. The subjects of this study were the community-based 5 years old children because they might be able to except acquired effects after birth as much as possible and focus on the genetic background, and there are possibilities that the results will be specific to the Japanese patients with ASD.
2020-08-01 | GSE144918 | GEO
Project description:The 600kb BP4-BP5 16p11.2 CNV (copy number variant) is associated with neuroanatomical, neurocognitive and metabolic disorders. These recurrent rearrangements are associated with reciprocal phenotypes such as obesity and underweight, macro- and microcephaly, as well as autism spectrum disorder (ASD) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal CNVs in 16p11.2. The genome-wide transcript perturbations correlated with clinical endophenotypes of the CNV and were enriched for genes associated with ASD. We uncovered a significant correlation between copy number changes and expression levels of genes mutated in ciliopathies. Transcriptome profiles of lymphoblastoid cell lines of 50 16p11.2 deletion carriers, 31 16p11.2 duplication carriers and 17 controls.
2015-05-10 | E-GEOD-57802 | biostudies-arrayexpress
Project description:The 600kb BP4-BP5 16p11.2 CNV (copy number variant) is associated with neuroanatomical, neurocognitive and metabolic disorders. These recurrent rearrangements are associated with reciprocal phenotypes such as obesity and underweight, macro- and microcephaly, as well as autism spectrum disorder (ASD) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal CNVs in 16p11.2. The genome-wide transcript perturbations correlated with clinical endophenotypes of the CNV and were enriched for genes associated with ASD. We uncovered a significant correlation between copy number changes and expression levels of genes mutated in ciliopathies.
2015-05-10 | GSE57802 | GEO
Project description:DNA from ectodermal cells of individuals with an Autism Spectrum Disorder born to mothers aged 35 and older was analzyed for discovery of differentially methylated regions and comethylation modules associated with ASD
2014-05-05 | GSE50759 | GEO
Project description:Autism spectrum disorder (ASD) and mental retardation (MR) represent clinically distinct neurodevelopmental disorders with a complex genetic etiology. Using microarrays we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated ASD and MR patients; DNA sequencing of SHANK2 revealed additional variants including a de novo nonsense mutation and 7 rare inherited changes. Our findings further link common genes between ASD and intellectual disability.
2010-05-01 | GSE20533 | GEO