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

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

PROVIDER: PRJNA752650 | ENA |

REPOSITORIES: ENA

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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 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

Genetic profiling of first-trimester chorionic villus samples using Affymetrix CytoScan 750K arrays

Project description:While chromosomal microarray analysis (CMA) is increasingly utilized in prenatal diagnosis, most research focuses on mid-to-late pregnancy amniotic fluid samples. Chorionic villus samples (CVS) from the first trimester possess distinct biological characteristics. To evaluate the efficacy of CMA in early pregnancy prenatal diagnosis, we performed a genomic analysis of CVS from high-risk pregnancies.We conducted a single-center cohort study of singleton pregnancies that underwent CVS between 11⁺⁰ and 13⁺⁶ weeks of gestation. Indications for testing included advanced maternal age, ultrasound-detected soft markers or structural anomalies, abnormal first-trimester serum screening, or adverse obstetric history. All villus samples were analyzed using CMA (Affymetrix CytoScan 750K arrays). Among the samples analyzed by CMA, 16.6% showed chromosomal abnormalities, with CNVs accounting for 58.9% of these cases. Compared with other indicators, the detection rate was significantly higher in the group with ultrasound abnormalities. Complex ultrasound abnormalities, in particular, hold greater clinical significance. This study demonstrates the utility of CMA for detecting chromosomal abnormalities in first-trimester CVS. Our findings support the integration of CMA into early prenatal diagnostic protocols.

2025-12-04 | GSE306863 | GEO

Genetic profiling of first-trimester chorionic villus samples using Affymetrix CytoScan 750K arrays

Project description:Genetic profiling of first-trimester chorionic villus samples using Affymetrix CytoScan 750K arrays

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

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

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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

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CytoScan HD array for multiple myeloma samples

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

2021-02-10 | GSE164554 | 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 HD array data of iPSCs and iPSC-derived-NSPCs

Project description:Cytoscan HD analysis on DNA samples from iPSCs, iPS-derived NSPCs

2016-09-14 | GSE77995 | GEO

two amniotic fluid sample performed by affymetrix cytoscan HD

Project description:The uploaded results of two samples were SNParray results in our research of which fetal CNVs were detected by noninvasive prenatal test (NIPT) and confirmed by microarray results. Sample ZNY162 received prenatal diagnosis because at 17 gestational week the pregnant woman received NIPT showing 23Mb microdeletion in Chr18. Later ultrasound examination showed developmental anomalies of feet and the 13th ribs. The pregnant woman received amniocentesis and SNParray at the 21st gestational week, which confirmed the existence of the microdeletion in Chr18. DNA was extracted from 10ml amniotic fluid and tested by Affymetrix CytoScan HD array to detect CNVs in whole genome, showing arr 18q22.3q23(69,461,933-78,014,123) Ã1. Sample LMQ155 received prenatal diagnosis because of advanced maternal age and NIPT result of a 2.29Mb microduplication in Chr13 at 15 gestational week. Amniocentesis was performed at the 17th gestational week. Affymetrix CytoScan HD array were used to detect fetal CNVs in whole genome, which showed arr 13q21.2(60,399,612-61,730,194) Ã3 that was consistent with NIPT result.

2016-11-16 | E-MTAB-4738 | biostudies-arrayexpress

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