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Items: 1 to 20 of 900

1.

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
2.

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
3.

Multi-omics data analysis for the JGOG3025-TR2 ovarian cancer cohort [OncoScan_CNV]

(Submitter supplied) The JGOG3025 study was conducted by the Japanese Gynecologic Oncology Group (JGOG) on 710 patients with epithelial ovarian cancer (NCT03159572). In the JGOG3025-TR2 study, fresh frozen tumor tissues from 274 and 15 cases diagnosed as stage II or higher high-grade serous carcinoma (HGSC) or high-grade endometrioid carcinoma (HGEC) in the central pathological review were submitted to SNP array, total RNA-sequencing, and DNA methylation array analyses.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL21558
287 Samples
Download data: CEL, OSCHP, TXT
Series
Accession:
GSE263437
ID:
200263437
4.

Vitamin-D Responsive SGPP2 Variants Associated with Lung Cell Expression and Lung Function

(Submitter supplied) Background: Vitamin D is associated with lung health in epidemiologi studies, but mechanisms mediating observed associations are poorly understood. This study explores mechanisms for an effect of vitamin D in lung through an in vivo gene expression study, an expression quantitative trait loci (eQTL) analysis in lung tissue, and a population-based cohort study of sequence variants. Methods: Microarray analysis investigated the association of gene expression in small airway epithelial cell with serum 25[OH]D in adult nonsmokers. more...
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL6804 GPL570
142 Samples
Download data: CEL, CHP
Series
Accession:
GSE44865
ID:
200044865
5.

Genotype-Smoking Environment Interactions affecting eQTL in the Human Lung

(Submitter supplied) Background: Cases where genotype-phenotype relationships depend on environmental factors have been quantified for many complex diseases. Such genotype-environment interactions (GEI or GxE) may also affect expression Quantitative Trait Loci (eQTL) present in tissues critical for the manifestation of disease. To assess this hypothesis, we performed an analysis of eQTL-GEI resulting from an individual's smoking environment in the lung small airway epithelium (SAE). more...
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array
Platforms:
GPL570 GPL6804
180 Samples
Download data: CEL, CHP
Series
Accession:
GSE23087
ID:
200023087
6.

Genetic Variability Modulation of SPOCK3 Gene Expression in the Human Small Airway Epithelium

(Submitter supplied) Testican 3 (coded for by SPOCK3), is an extracellular matrix heparan/chondroitin sulphate proteoglycan that possesses serine and cysteine protease inhibitor-like domains Based on the knowledge that serine proteases contribute to the destruction of the lung in cigarette smokers, but that only a fraction of smokers develop smoking-induced lung disease, we hypothesized that smokers expressed SPOCK3 at lower levels in the small airway epithelium, the initial site of smoking-induced disease, and further, that genetic variability modulates the expression of SPOCK3 in the airway epithelium. more...
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL570 GPL6804
212 Samples
Download data: CEL, CHP
Series
Accession:
GSE13932
ID:
200013932
7.

SNP genotyping array of human naive pluripotent stem cells II

(Submitter supplied) Human pluripotent stem cells have two major pluripotent states, primed and naive, and the heterogeneity among cell lines in each pluripotent state remains a major unresolved problem. We showed that the overexpression of H1FOO-DD, which has a short expression period by fusing the destabilized domain to the maternal-specific linker histone H1FOO, together with OCT4, SOX2, KLF4 and LMYC in human somatic cells improves the quality of reprogramming to primed and naive pluripotency.
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platform:
GPL34118
30 Samples
Download data: IDAT, TXT
Series
Accession:
GSE253926
ID:
200253926
8.

Genotyping of Malignant Pleural Mesothelioma primary cell lines by SNP array

(Submitter supplied) SNP array data from 45 cell lines of Malignant Pleural Mesothelioma were used to explore recurrent copy number alterations. This study was part of Cartes d'Identité des Tumeurs (CIT) project from the french Ligue Nationale Contre le Cancer.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL21168
45 Samples
Download data: IDAT, TXT
Series
Accession:
GSE197288
ID:
200197288
9.

Genome-wide association analysis and genome resequencing reveal a genomic duplication possibly concerning a novel chicken comb morphology

(Submitter supplied) Here, we report on a novel chicken comb phenotype, designated Antler-comb. Using a 600K Axiom® Genome-Wide Chicken Genotyping Array, we separately genotyped 12 and 24 female Hetian Wildtype-comb and Antler-comb chickens, respectively. Meanwhile, we sequenced the genomes of 10 Hetian Antler-comb and 10 Wildtype-comb chickens to interrogate the GWAS results and explore the potential genetic variants underlying this phenotype. more...
Organism:
Gallus gallus
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platform:
GPL23815
36 Samples
Download data: CEL, XLSX
Series
Accession:
GSE145948
ID:
200145948
10.

Unravelling the heterogeneous molecular landscape of pediatric post-transplant lymphoproliferative disorders

(Submitter supplied) It is unknown whether pediatric monomorphic post-transplant lymphoproliferative disorders (mPTLD) display similar genetic features than the immunocompetent counterpart and if they resemble adult mPTLD. We have investigated 39 pediatric mPTLD, 33 diffuse large B-cell lymphoma (DLBCL) and six Burkitt lymphoma (BL), by an integrated approach, including fluorescence in situ hybridization, cell of origin determination (COO), targeted gene sequencing and copy-number arrays. more...
Organism:
Homo sapiens; Mus musculus
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL18603 GPL18602
26 Samples
Download data: CEL, OSCHP, XLSX
Series
Accession:
GSE198253
ID:
200198253
11.

A study of genetic variants associated with skin traits in the Vietnamese population

(Submitter supplied) Background: Most skin-related traits have been studied in Caucasian genetic backgrounds. A comprehensive study on skin-associated genetic effects on underrepresented populations such as Vietnam is needed to fill the gaps in the field. Objectives: We aimed to develop a computational pipeline to predict the effect of genetic factors on skin traits using public data (GWAS catalogs and whole-genome sequencing (WGS) data from the 1000 Genomes Project-1KGP) and in-house Vietnamese data (WGS and genotyping by SNP array). more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL33106
96 Samples
Download data: IDAT, VCF
Series
Accession:
GSE248483
ID:
200248483
12.

Alcohol dehydrogenase 1B emerged prominent in the carcinogenesis of oro- and hypopharyngeal cancers in Genome-Wide Study in areca-quid endemic area

(Submitter supplied) Head and neck squamous cell carcinomas (HNSqCC) are related with cigarette, alcohol and areca quid (AQ). In the era of precision preventive medicine, susceptible genetic markers for HNSqCCs were investigated by genome-wide association manner.
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL32738
698 Samples
Download data: CEL, TXT
Series
Accession:
GSE218224
ID:
200218224
13.

Functional interrogation of twenty Type 2 Diabetes-associated genes using isogenic hESC-derived β-like cells (SNP chip)

(Submitter supplied) Genetic studies have identified numerous loci associated with type 2 diabetes (T2D), but the functional role of many loci has remained unexplored. In this study, we engineered isogenic knockout human embryonic stem cell (hESC) lines for 20 genes associated with T2D risk. We systematically examined β-cell differentiation, insulin production and secretion, and survival. We performed RNA-seq and ATAC-seq on hESC-β cells from each knockout line. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL25201
1 Sample
Download data: IDAT, TXT
Series
Accession:
GSE228956
ID:
200228956
14.

Functional interrogation of twenty Type 2 Diabetes-associated genes using isogenic hESC-derived β-like cells

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing; SNP genotyping by SNP array
Platforms:
GPL25201 GPL24676
139 Samples
Download data: IDAT, TXT
Series
Accession:
GSE228665
ID:
200228665
15.

Preclinical quality, safety and efficacy of a human embryonic stem cell-derived product for treatment of people with moderate Parkinson’s Disease (STEM-PD)

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array; Other
Platforms:
GPL21697 GPL15520 GPL13829
9 Samples
Download data: IDAT, VCF
Series
Accession:
GSE229769
ID:
200229769
16.

Preclinical quality, safety and efficacy of a human embryonic stem cell-derived product for treatment of people with moderate Parkinson’s Disease (STEM-PD) III

(Submitter supplied) Cell replacement therapies for Parkinson’s Disease (PD) based on transplantation of dopaminergic neurons generated from pluripotent stem cell sources are now entering clinical trials.  Here, we present the quality, safety and efficacy data supporting a first-in-human clinical trial in PD using an embryonic stem cell product STEM-PD, as well as the design of the trial itself. The cryopreserved STEM-PD product was manufactured under Good Manufacturing Practice (GMP) and fully quality-tested in vitro for regulatory compliance. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
6 Samples
Download data: CSV, IDAT
Series
Accession:
GSE229768
ID:
200229768
17.

Association analysis of invasive urinary carcinoma in the Shetland sheepdogs and related breeds.

(Submitter supplied) Naturally occurring canine invasive urinary carcinoma (iUC) closely resembles human muscle invasive bladder cancer in terms of histopathology, metastases, response to therapy and, low survival rate. The heterogeneous nature of the disease has led to the association of large numbers of risk loci in humans, however most are of small effect. There exists a need for new and accurate animal models of invasive bladder cancer. more...
Organism:
Canis lupus familiaris
Type:
SNP genotyping by SNP array
Platform:
GPL17481
160 Samples
Download data: IDAT, TXT
Series
Accession:
GSE241367
ID:
200241367
18.

Copy number alteration burden differentially impacts immune profiles and molecular features of hepatocellular carcinoma

(Submitter supplied) Here, we show that in hepatocellular carcinoma (HCC, the most prevalent form of primary liver cancer), tumours with a high burden of broad genomic alterations presented immune exclusion. On the other hand, HCC tumours with a reduced rate of broad genomic alterations were enriched in the HCC immune class, exhibited inflammatory traits and were cleared from CTNNB1 mutations. Overall, we propose that, in HCC, the acquisition of high-levels of broad copy number alterations might be implicated in the development of immune evasion, and that tumours presenting a reduced rate of these broad alterations display an immune profile which may indicate a favourable response to immunotherapies.
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL16333
300 Samples
Download data: IDAT, TXT
Series
Accession:
GSE153338
ID:
200153338
19.

DNA Methylation Signatures Differentiate Meningiomas from Normal Dura

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array; Methylation profiling by genome tiling array; Other
Platforms:
GPL13534 GPL18900
43 Samples
Download data: IDAT
Series
Accession:
GSE178143
ID:
200178143
20.

DNA Methylation Signatures Differentiate Meningiomas from Normal Dura [OmniSNP]

(Submitter supplied) Meningiomas are the most common primary brain tumor. Though typically benign with a low mutational burden, histopathologic analysis has poor predictive value for malignant behavior and there are no proven chemotherapies. Although DNA methylation patterns distinguish subgroups of meningiomas and have higher predictive value for tumor behavior than histologic classification, little is known about differences in DNA methylation between meningiomas and surrounding normal dura tissue. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL18900
19 Samples
Download data: IDAT, TXT
Series
Accession:
GSE176457
ID:
200176457
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