Custom Microarray Developmental Disabilities Clinical Dataset
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA377195 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Genetic Basis of Developmental Disabilities
| PRJNA170135 | ENA
Project description:Custom Microarray Developmental Disabilities Clinical Dataset
| PRJNA377196 | ENA
Project description:Developmental gene expression in Clonorchis sinensis using Custom-fabricated 12K oligonucleotide microarray
| PRJNA562072 | ENA
Project description:<p>Developmental disabilities are birth defects that cause lifelong problems with how a body part or system works. Developmental disabilities include nervous system insults affecting how the brain, spinal cord and nervous system function; they cause intellectual disability, including Down syndrome and fragile X syndrome; and they also cause learning and behavioral disorders, such as autism spectrum disorders. At the Kennedy Krieger Institute, approximately 450 inpatients and 13,000 outpatients are seen per year (involving 114,000 visits). For most of these disorders, the underlying molecular cause has not been identified. Some, such as chromosomal disorders, have a strongly genetic basis while others, such as traumatic brain injury, are caused by environmental insults but are nonetheless influenced by the genetic background. The purpose of the present study is to identify chromosomal abnormalities underlying a variety of developmental disabilities. The approach is to obtain blood and saliva from children, and from one or both biological parents (and in some cases from siblings and/or additional relatives). Genomic DNA is purified and assayed on single nucleotide polymorphism (SNP) microarrays and/or by sequencing, including whole genome sequencing. These technologies provide high resolution information about chromosomal changes, and the information provided by the parental (and other relatives') DNA allows an interpretation of whether changes in a child are inherited or occur <i>de novo</i>. The study design includes multiple data analysis procedures to interpret the biological significance of findings of chromosomal changes relative to a child's parents, relative to children with similar diagnoses, relative to children with other chromosomal anomalies, and (in some cases) relative to the chromosomal status of siblings. We will further interpret the significance of the findings relative to the general (apparently normal) population by obtaining publicly available data from apparently normal individuals. </p>
| phs000337 | dbGaP
Project description:Hinchcliff 165 microarray dataset
| PRJNA256198 | ENA
Project description:Natural antisense transcripts (NATs) have been detected in many organisms and shown to regulate gene expression. Similarly, NATs have also been observed in malaria parasites with most studies focused on Plasmodium falciparum. There were no reports on the presence of NATs in Plasmodium vivax, which has also been shown to cause severe malaria like P. falciparum, until a recent study published by us. To identify in vivo prevalence of antisense transcripts in P. vivax clinical isolates, we performed whole genome expression profiling using a custom designed strand-specific microarray that contains probes for both sense and antisense strands. Here we describe the experimental methods and analysis of the microarray data available in Gene Expression Omnibus (GEO) under GSE45165. Our data provides a resource for exploring the presence of antisense transcripts in P. vivax isolated from patients showing varying clinical symptoms. Related information about the description and interpretation of the data can be found in a recent publication by Boopathi and colleagues in Infection, Genetics and Evolution 2013.
| S-EPMC4535868 | biostudies-literature
Project description:Developmental gene expression patterns (9812 genes) of juvenile and adult C. sinensis were analyzed using a 12K oligonucleotide microarray (a total of 11617 genes). A number of significantly differentially expressed genes having more than 2-fold difference were observed in adult stage compared to juvenile stage. This finding suggests that the expression levels of different gene sets are controlled in C. sinensis for adaptation to environmental change, such as developmental stages.
2019-08-26 | GSE136298 | GEO
Project description:The goal of this project is to develop and pilot test an innovative approach for overcoming barriers to cancer screening among women with physical disabilities (WWD) in rural Oregon. Many studies have shown that people with disabilities receive fewer indicated cancer screening services and are more likely to have poor cancer-related outcomes, such as late stage at diagnosis, compared to those without disabilities.
| 2138723 | ecrin-mdr-crc
Project description:Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype ( approximately 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
| S-EPMC2869000 | biostudies-literature