Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA376013 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Affymetrix Cytoscan HD 2,600K SNP array data for 9 GISTs
| PRJNA359797 | ENA
Project description:Genome-wide copy number variation profiles were analyzed in the patient-derived gliobastoma cell culture samples. For this purpose, gDNA was analyzed using the CytoScan® assay in combination with a one-color based labeling and hybridization protocol. Signals on the CytoScan® HD microarrays were detected using the Affymetrix GeneChip® 3000 Scanner.
2021-07-07 | E-MTAB-9341 | biostudies-arrayexpress
Project description:Genome-wide copy number variation profiles were analyzed in the patient-derived gliobastoma cell culture samples. For this purpose, gDNA was analyzed using the CytoScan® assay in combination with a one-color based labeling and hybridization protocol. Signals on the CytoScan® HD microarrays were detected using the Affymetrix GeneChip® 3000 Scanner.
2019-02-28 | E-MTAB-7649 | biostudies-arrayexpress
Project description:Retinoblastoma is a childhood retinal tumor that initiates in response to biallelic RB1 inactivation. We show that post-mitotic human cone precursors are uniquely sensitive to the oncogenic effects of Rb depletion. Rb knockdown induced cone precursor proliferation in prospectively isolated populations. SNP-array analysis of two Rb/p130-depleted cone precursor cell lines, revealing no megabase-size loss of heterozygosity (LOH) or copy number alterations (CNAs). SNP-array analysis of one Rb/p130-depleted (tumor 1) or one Rb-depleted (tumor 2) cone precursor-derived tumors, revealing no megabase-size LOH or CNAs, consistent with the lack of DNA copy number alterations in some retinoblastomas. Thus, the cone precursor tumors resembled human retinoblastomas at the molecular cytogenetic level. High resolution SNP-array DNA copy number analyses were performed using CytoScan® HD (Affymetrix, 901835) according to the manufacturer's directions. Data were analyzed using Chromosome Analysis Suite 2.0 (Affymetrix). DNA was extracted from two Rb/p130 depleted cone precursor cell lines and two cryopreserved mouse retinoblastoma samples from eyes xenograted with Rb/p130 or Rb depleted cone precursors. Affymetrix SNP analysis on retinoblastoma cell lines Y79, RB176, and WERI were used as control. Normal human genome 19 was used as reference.
2014-08-25 | E-GEOD-60720 | biostudies-arrayexpress
Project description:Affymetrix CytoScan HD array for newly diagnosed multiple myeloma patients.
2021-02-10 | GSE164554 | GEO
Project description:The Affymetrix Genome-Wide Human SNP 6.0 and CytoScan HD arrays are high-resolution SNP platforms for studying copy number variations in the human genome. It is widely being used in both clinical and research settings for identifying causative variants as well as interrogating the genome for benign variants. We employed this platform to investigate the burden of clinically relevant rare (<0.1% in population controls) CNVs in individuals with schizophrenia, stratified by IQ group. We genotyped 540 unrelated probands with schizophrenia and applied rigorous methods to detect genome-wide CNVs. All rare CNV >500 kb and all rare exonic CNV >100 kb were adjudicated for clinical relevance following the American College of Medical Genetics guidelines for CNV interpretation. Our results revealed that burden of pathogenic CNVs is significantly greater for individuals with schizophrenia and low IQ compared to those with normal to superior IQ
2017-11-30 | GSE106818 | GEO
Project description:we used single-cell transcriptomics and genotyping arrays to characterize 17 neuroblastoma samples across different risk groups and genetic subsets.Fresh samples, obtained from surgical resections and core biopsies, were used for genome variation profiling. DNA extraction from neuroblastoma samples was performed using the DNeasy blood and tissue kit (Qiagen) according to the manufacturer’s protocol. DNA quality was assessed using the Tapestation platform (Agilent). SNP microarray analysis was performed using the Cytoscan HD Array (Affymetrix) and data was processed using the Chromosome Analysis Suite version 3.3.0.139.
2022-12-14 | GSE147773 | 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:Purpose: Chromosomal microarray analysis (CMA) to assess copy number variation (CNV) content is now used as a first tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA). Over 100 cytogenetic labs worldwide are using the Affymetrix CytoScan HD 2.7M array to genotype >15,000 clinical samples per month. The aim of this study is to develop a CNV resource from a population control cohort that can be used as a community resource for interpretation of clinical and research samples. Methods: We have genotyped a large population control set (1,000 individuals from our Ontario Population Genomics Platform (OPGP)) using the Affymetrix CytoScan HD microarray comprising 2.7 million probes. Four independent algorithms were applied to detect and assess high confidence CNVs. Reproducibility and validations were quantified using sample replicates and Quantitative-PCR (QPCR), respectively. Results: DNA from 873 individuals from the OPGP cohort passed quality control and we have identified 71,178 CNVs (81 CNVs/individual) distributed across 796 different cytogenetic regions in the genome; 9.8% of the CNVs were previously unreported. After applying three layers of filtering criteria, from our high confidence CNVs dataset, we obtained a >95% reproducibility and >90% validation rate. Due to the array's high probe density within genic regions, our high confidence CNV data set show 73% of the detected CNVs overlapped at least one gene. Conclusion: The genotype data and annotated CNVs presented in this study will represent a valuable public resource enabling clinical genetics research and diagnostics.
2014-07-24 | GSE59150 | GEO
Project description:The Affymetrix CytoScan HD array is a high resolution SNP platform for studying copy number variations in the human genome. It is widely being used in both clinical and research settings for identifying causative variants as well as interrogating the genome for benign variants. We employed this platform to investigate the risk factor CNVs in trios diagnosed with hemiplegic cerebral palsy. We genotyped 101 unrelated probands and their both parents and compared their genotypes to those of 9,611 population controls, in order to identify rare CNVs (<0.1% frequency) of at least 10 kb in size that might contribute to CP. We uncovered de novo CNVs and Decipher Syndromes in probands. We have identified additional potentially risk factor CNVs impacting the coding sequencing of genes involved in brain functions.
2017-11-23 | GSE80813 | GEO