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Items: 1 to 20 of 3900

1.

Identification of genetic modifiers of vEDS mice using whole-genome SNP data

(Submitter supplied) Aortic dissection or rupture is a major cause of mortality in vascular Ehlers Danlos Syndrome (vEDS), a connective tissue disorder caused by heterozygous mutations in the COL3A1 gene. C57BL6/J (BL6) mice carrying the Col3a1G938D/+ mutation recapitulate the vEDS vascular phenotype and die suddenly of aortic rupture/dissection. However, 129S6/SvEvTac (129) mice expressing the same Col3a1G938D/+ mutation show near-complete life-long protection from vascular rupture. more...
Organism:
Mus musculus
Type:
Genome variation profiling by SNP array
Platform:
GPL34100
234 Samples
Download data: CSV, IDAT
Series
Accession:
GSE277421
ID:
200277421
2.

SNP array analysis has facilitated the identification of novel chromosomal alterations associated with disease and SNPs related to Adverse Drug Reactions in neuroblastoma

(Submitter supplied) Chromosome abnormalities are common characteristics of neuroblastoma and have been associated with treatment, relapse and survival risk factors. The processes governing the incidence or advancement of chromosomal copy number abnormalities remain unclear, despite progress in understanding their prognostic implications. Single nucleotide polymorphism (SNP) array analysis was performed on a set of 45 neuroblastoma samples in order to examine chromosomal CNAs and SNPs. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL19718
45 Samples
Download data: IDAT, TXT
Series
Accession:
GSE288908
ID:
200288908
3.

Agilent aCGH array data for meningioma samples

(Submitter supplied) We analyzed 1042 meningiomas with whole-genome microarray including 12 meningiomas with multifocal sampling to characterize how CNV thresholds influence their molecular classification and outcome.
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL8736
526 Samples
Download data: TXT
Series
Accession:
GSE287929
ID:
200287929
4.

Affymetrix SNP array data for meningioma samples

(Submitter supplied) We analyzed 1042 meningiomas with whole-genome microarray including 12 meningiomas with multifocal sampling to characterize how CNV thresholds influence their molecular classification and outcome.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL21558
516 Samples
Download data: CEL, OSCHP
Series
Accession:
GSE287920
ID:
200287920
5.

Human gastric cancer cell line; CGH array analysis of SNU-16 parental and clones cells

(Submitter supplied) Chromosomal instability in gastric cancer cells is associated with the amplification of oncogenes that encode receptor tyrosine kinases (RTKs), such as HER2 and FGFR2; such gene amplification varies from cell to cell and manifests as genetic heterogeneity within tumours. The intratumoural genetic heterogeneity of RTK gene amplification causes heterogeneity in RTK protein expression, which has been suggested to be associated with therapeutic resistance to RTK inhibitors; however, the underlying mechanism is not fully understood. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by array
Platform:
GPL10152
7 Samples
Download data: TXT, XLSX
Series
Accession:
GSE286144
ID:
200286144
6.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

(Submitter supplied) Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset neurological disorder characterized by extensive CNS demyelination. Most cases of ADLD are caused by tandem genomic duplications involving the lamin B1 gene (LMNB1), while a small subset result from genomic deletions upstream of the gene. However, recently identified families carrying the LMNB1 gene duplication, but lacking demyelination, have been found, suggesting the involvement of a non-coding regulatory element. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by array
Platform:
GPL35255
6 Samples
Download data: TXT
Series
Accession:
GSE285491
ID:
200285491
7.

CGH: Rag2_and_Rsv1-h_recombinant_haplotype_analysis

(Submitter supplied) Soybean lines were compared to the reference genome Williams 82 (Wm82) by CGH to catalog feature polymorphisms in a Rag2 and Rsv1-h QTL region The CGH comparisons reveal reveal feature polymorphisms among the parental and recombinant lines.
Organism:
Glycine max
Type:
Genome variation profiling by genome tiling array
Platform:
GPL18500
7 Samples
Download data: PAIR, TXT
Series
Accession:
GSE285240
ID:
200285240
8.

Affymetrix OncoScan SNP arrays for profiling somatic copy-number alterations in primary renal diffuse large B cell lymphoma

(Submitter supplied) Molecular profiling of primary renal diffuse large B cell lymphoma unravels a proclivity for immune-privileged organ-tropism. Here, we used Affymetrix OncoScan CNV arrays to characterise somatic copy number variations in 29 prDLBCL cases.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL21558
29 Samples
Download data: CEL, TXT
Series
Accession:
GSE270422
ID:
200270422
9.

Copy number variation analysis of a fetus with Silver-Russell syndrome in China

(Submitter supplied) The Affymetrix CytoScan 750K Array chip contains 200000 SNP markers and 550000 CNV markers, distributed across the entire human genome at an average density of approximately 1 marker/4kb (not covering all loci of the entire chromosome genome). It is used to detect clinically significant chromosomal microdeletions/microduplications, chromosomal subtelomer deletion syndrome, and other abnormal chromosomal copy number variations (CNVs) as well as loss of heterozygosity (LOH). more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL18637
1 Sample
Download data: CEL, CYCHP
Series
Accession:
GSE283758
ID:
200283758
10.

A decision point between transdifferentiation and programmed cell death priming controls

(Submitter supplied) The involvement of cell death pathways in the early stage of pancreatic ductal adenocarcinoma (PDAC) development, especially KRAS-dependent acinar-to-ductal metaplasia (ADM), remains to be investigated. Here, we show that TAK1 mediates cell survival during ADM transdifferentiation through suppression of Caspase-8/3-dependent apoptosis and RIPK3-MLKL-dependent necroptosis, which could be targeted for prevention and treatment of PDAC. more...
Organism:
Mus musculus
Type:
Genome variation profiling by array
Platform:
GPL16796
10 Samples
Download data: TXT, XLSX
Series
Accession:
GSE282891
ID:
200282891
11.

ZNF350 gene polymorphisms promote the response to Peg-IFNα therapy through JAK-STAT signaling pathway in patients with chronic hepatitis B

(Submitter supplied) The varying individual responses to Peg-IFNα in patients with CHB pose significant hurdles in treatment optimization, and the underlying mechanisms remain unclear. We aimed to identify genetic polymorphisms influencing the efficacy of Peg-IFNα in patients with HBeAg-positive CHB,with the goal to predict Peg-IFNα response before treatment.
Organism:
Homo sapiens
Type:
Genome variation profiling by array
Platform:
GPL33106
124 Samples
Download data: XLSX
Series
Accession:
GSE276479
ID:
200276479
12.

MYC-rearranged aggressive B-cell lymphoma are molecularly Burkitt Lymphoma despite of morphology.

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array; Genome variation profiling by SNP array
Platforms:
GPL16131 GPL21558
35 Samples
Download data: CEL, CYCHP, OSCHP
Series
Accession:
GSE252974
ID:
200252974
13.

MYC-rearranged aggressive B-cell lymphoma are molecularly Burkitt Lymphoma despite of morphology [OncoScan_CNV]

(Submitter supplied) Overall, the genetic profile of aggressive B-cell NHL in CAYA in the spectrum of BL and DLBCL is heterogeneous. MYC-R cases mostly displayed a molecular profile close to BL regardless of their morphology, whereas MYC-non-R had a more heterogeneous genetic landscape resembling DLBCL.  
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array; Genome variation profiling by SNP array
Platform:
GPL21558
30 Samples
Download data: CEL, OSCHP
Series
Accession:
GSE252948
ID:
200252948
14.

MYC-rearranged aggressive B-cell lymphoma are molecularly Burkitt Lymphoma despite of morphology [CYTOSCAN]

(Submitter supplied) Overall, the genetic profile of aggressive B-cell NHL in CAYA in the spectrum of BL and DLBCL is heterogeneous. MYC-R cases mostly displayed a molecular profile close to BL regardless of their morphology, whereas MYC-non-R had a more heterogeneous genetic landscape resembling DLBCL.  
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array; Genome variation profiling by SNP array
Platform:
GPL16131
5 Samples
Download data: CEL, CYCHP
Series
Accession:
GSE252947
ID:
200252947
15.

Genotyping of hundreds of individuals from Kazakh population in Kazakhstan

(Submitter supplied) Genotyping of hundreds of healthy individuals with Kazakh ethnicity as a reference cohort for further genetic investigations
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL28939
224 Samples
Download data: CSV, IDAT, TXT
Series
Accession:
GSE199322
ID:
200199322
16.

Cytokine polymorphism in HBV infected patients in Ghanaian population

(Submitter supplied) Genetic variations in drug metabolising enzymes play a role in how individuals respond to drugs. Pharmacogene variation data in the Ghanaian population is limited and this study looks at exploring common variations that exist in our population for commonly used drugs. In addition, the study also looks at the how variations in cytokines and HLA play a role in HBV pathogenesis. Samples were validated with PCR-RFLP for accuracy
Organism:
Homo sapiens
Type:
Genome variation profiling by array
Platform:
GPL33422
185 Samples
Download data: TXT, XML
Series
Accession:
GSE274827
ID:
200274827
17.

Genomic reconstruction of Galápagos dog history reveals strategies for management of an invasive species

(Submitter supplied) Free-breeding dogs have occupied the Galápagos islands at least since the 1830s, however, it was not until the 1900s that dog populations grew substantially, endangering wildlife and spreading disease. In 1981, authorities sanctioned the culling of free-roaming dogs. Yet there are currently large free-roaming dog populations of unknown ancestry on the islands of Isabela and Santa Cruz, whose ancestry has never been assessed on a genome-wide scale. more...
Organism:
Canis lupus familiaris
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platform:
GPL17481
187 Samples
Download data: IDAT, TXT
Series
Accession:
GSE276576
ID:
200276576
18.

OncoScan™ CNV FFPE Assay data for desmoid tumors

(Submitter supplied) Desmoid tumors are bland fibroblastic tumors with little histologic variation in different regions of the tumor. While desmoid tumors do not metastasize, they have a high rate of local recurrence after complete resection and no reliable predictors of clinical behavior exist. The presence of molecular intra- and inter-tumor heterogeneity has been well established in other, higher grade, sarcomas but little is known about molecular variability within histologically bland lesions. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL21558
23 Samples
Download data: CEL, OSCHP
Series
Accession:
GSE250149
ID:
200250149
19.

Single Nucleus DNA Sequencing of Flow Sorted Archived Frozen and Formalin Fixed Paraffin Embedded Solid Tumors

(Submitter supplied) We applied DNA content based flow cytometry methods to interrogate the genomes of clinical samples from 8 patients with ovarian cancer. These included 6 high grade serous ovarian carcinomas, a low grade serous carcinoma, and an endometriod carcinoma. Archived samples obtained from surgical resections from a University of California San Francisco (UCSF) tissue bank. Notably for this study we distinguished and sorted diploid and aneuploid tumors. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by array
Platform:
GPL9777
8 Samples
Download data: TXT
Series
Accession:
GSE268921
ID:
200268921
20.

NanoString nCounter Cancer CN panel assay CNV detection of high-grade serous carcinoma samples

(Submitter supplied) CNVs detection using 13 samples’ pairs of (12 samples’ pairs of histologically confirmed diagnosis of high-grade serous carcinoma and one patient with endometrioid carcinoma and matching normal tissues. Samples have IHC status for p53, WT1, Ki-67, PAX-8, and TNM classification according to WHO Classification of Tumors. Please cite the original atricle: Grebnev, P.A.; Meshkov, I.O.; Ershov, P.V.; Makhotenko, A.V.; Azarian, V.B.; Erokhina, M.V.; Galeta, A.A.; Zakubanskiy, A.V.; Shingalieva, O.S.; Tregubova, A.V.; et al. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL33798
26 Samples
Download data: RCC, TXT
Series
Accession:
GSE244329
ID:
200244329
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