Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study

ABSTRACT: Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study

PROVIDER: PRJNA638907 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

CytoScan 750K array data for the ataxia patient's sample

Project description:CytoScan 750K array was performed for the detection of CNV associated with the patient's phenotype CytoScan 750K array was performed according to the manufacturer's directions on DNA extracted from peripheral blood sample.

2021-08-07 | GSE181612 | GEO

Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study

Project description:BACs-on-Beads (BoBs) assay and Copy Number Variation Sequencing (CNV-Seq) are two frequently used methods in today’s prenatal diagnosis. Several researches studies were conducted to investigate the performance of each approach, but they were never compared side by side. This dataset is intended to be used as the 'gold standard dataset' for the validation of BoBs/CNV-seq test reasults on 10 amniotic fluid samples with pathogenic fetal CNVs.

2020-06-12 | GSE152288 | GEO

CNV patterns in BRAFi resistant melanoma cell lines

Project description:Genome variation profiling of BRAFi resistant melanoma cell lines comapered to the original ones by Affymetrix CytoScan 750K microarray

2019-01-31 | GSE114488 | GEO

Affymetrix CytoScan 750K array data for a parthenogenetic SMA human embryonic stem cell line

Project description:A diploid 46(XX) human embryonic stem cell (HESC) line affected by Spinal muscular atrophy type 1 (SMA) due to homozygosity for a common deletion in the SMN1 gene was derived. By characterizing the methylation status of three different imprinted loci (MEST, SNRPN and H19) and carrying out genome-wide SNP analysis, we provide evidence that this cell line was established from the activation of a mutant haploid oocyte through parthenogenesis, resulting in homozygote diploidization of the entire genome. Affymetrix CytoScan 750K array analysis was performed according to the manufacturer's directions on DNA extracted from tissue culture. Copy number and LOH analysis of the Affymetrix CytoScan 750K array was performed for the SMA HESC line.

2015-09-01 | E-GEOD-72284 | biostudies-arrayexpress

Affymetrix CytoScan HD for autism spectrum disorder in children

Project description:Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNV). The aim of the study was to identify new candidate genes for ASD in the studied cohort of ASD-diagnosed patients. We used chromosomal microarray analysis (CMA) - a Cytoscan HD (Affymetrix, Santa Clara, CA, USA) to detect CNV in 87 ASD patients and their relatives and evaluated their clinical significance. Pathogenic and likely pathogenic mutations were identified by CMA in 8 and 9 ASD patients, respectively. CMA revealed 89 rare CNV: 8 pathogenic, 12 designated VOUS - likely pathogenic, 12 VOUS - uncertain, and 57 VOUS - likely benign or benign. CNV (pathogenic/VOUS-likely pathogenic/VOUS - uncertain) overlapping the same gene in more than one patient were observed in DOCK8 gene and PARK2 gene. This work presents new evidence about the possible roles of PARK2 and DOCK8 in the etiology of ASD, and suggests CTNNA2 as a candidate gene for ASD risk.

2018-05-25 | GSE114870 | GEO

Affymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples

Project description:Affymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples

| PRJNA493801 | ENA

Affymetrix CytoScan HD for autism spectrum disorder in children

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

| PRJNA472953 | ENA

Affymetrix CytoScan HD array data for patient with Intellectual Disabilities

Project description:Standard cytogenetic GTG-banding analysis (550 bands) revealed an interstitial deletion on 15q21q22 chromosomal region. Refinement of the 15q21.2 deletion intervals was conducted using aCGH (Cytoscan HD, Affymetrix) on DNA samples from the patient. This assay revealed the presence of submicroscopic alterations on chromosomes 1, 9 and 15. The result was arr[hg19] 9p24.1(6,619,823-6,749,335)x3, 1q44(248,688,586-248,795,277)x1, 15q21.2q22.2(50,848,301-61,298,006)x1.

2014-06-21 | GSE58694 | GEO

Affymetrix CytoScan HD array data for patient with Intellectual Disabilities

2014-06-21 | E-GEOD-58694 | biostudies-arrayexpress

CytoScan HD array for multiple myeloma samples

Project description:Affymetrix CytoScan HD array for newly diagnosed multiple myeloma patients.

2021-02-10 | GSE164554 | GEO