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Items: 10

1.

Genome-wide DNA methylation and SNP genotyping of ǂKhomani San

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Methylation profiling by array; SNP genotyping by SNP array
4 related Platforms
105 Samples
Download data
Series
Accession:
GSE99091
ID:
200099091
2.

SNP genotyping of ǂKhomani San

(Submitter supplied) 48 ǂKhomani San living in the South African Kalahari were genotyped using the Illumina OmniExpress, OmniExpress Plus, and HumanHap550 arrays
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platforms:
GPL18900 GPL6982 GPL20333
48 Samples
Download data: BIM, DATA, FAM, MAP, PED
Series
Accession:
GSE99090
ID:
200099090
3.

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; Genome variation profiling by genome tiling array
15 related Platforms
30 Samples
Download data: CEL, IDAT, TXT
Series
Accession:
GSE96909
ID:
200096909
4.

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans [IlluminaHumanOmniExpressExome]

(Submitter supplied) Background High-resolution microarray technology is routinely used in basic research and clinical practice to efficiently detect copy number variants (CNVs) across the entire human genome. A new generation of arrays combining high probe densities with optimized designs will comprise essential tools for genome analysis in the coming years. We systematically compared the genome-wide CNV detection power of all 17 available array designs from the Affymetrix, Agilent, and Illumina platforms by hybridizing the well-characterized genome of 1000 Genomes Project subject NA12878 to all arrays, and performing data analysis using both manufacturer-recommended and platform-independent software. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL20333
2 Samples
Download data: IDAT, TXT
Series
Accession:
GSE96791
ID:
200096791
5.

Detectable clonal mosaicism in blood as biomarker of cancer risk in Fanconi anemia

(Submitter supplied) Detectable clonal mosaicism for large chromosomal events has been associated with aging and increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders such as Fanconi anemia (FA) could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by Single-Nucleotide Polymorphism (SNP) array in 130 FA patients’ blood DNA and their impact on cancer risk. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
4 related Platforms
130 Samples
Download data: IDAT, TXT
Series
Accession:
GSE93692
ID:
200093692
6.

CSF pQTL study in the Japanese population

(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:
GPL18224 GPL21942 GPL20333
287 Samples
Download data
Series
Accession:
GSE83711
ID:
200083711
7.

CSF pQTL study in the Japanese population [genotyping Q35]

(Submitter supplied) Cerebrospinal fluid (CSF) is virtually the only one accessible source of proteins derived from the central nervous system (CNS) of living humans and possibly reflects the pathophysiology of a variety of neuropsychiatric diseases. However, little is known regarding the genetic basis of variation in protein levels of human CSF. We examined CSF levels of 1,126 proteins in 133 subjects and performed genome-wide association analysis of 514,227 single nucleotide polymorphisms (SNPs) to detect protein quantitative trait loci (pQTLs). more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20333
64 Samples
Download data: CSV
Series
Accession:
GSE83709
ID:
200083709
8.

Genomic landscape affected by allelic imbalance in the cancerization filed of normal appearing airway

(Submitter supplied) Normal appearing airway samples from non-small cell lung (NSCLC) cancer patients were profiled using illumina sequencing arrays. Allelic imbalance was detected in normal-appearing large and small airway samples and affected known lung cancer driver genes.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20333
435 Samples
Download data: TXT
Series
Accession:
GSE80519
ID:
200080519
9.

Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture

(Submitter supplied) Reliable, scalable and time-efficient culture methods are required to fully realize the clinical and industrial applications of human pluripotent stem (hPS) cells. Here we present a completely defined, xeno-free medium that supports long-term propagation of hPS cells on uncoated tissue-culture plastic. The medium consists of the Essential 8 (E8) formulation supplemented with Inter-α-inhibitor (IαI), a human serum-derived protein, recently demonstrated to activate key pluripotency pathways in mouse PS cells. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20333
14 Samples
Download data: TXT
Series
Accession:
GSE82103
ID:
200082103
10.

An Automated, High Platform for Induced Pluripotent Stem Cell Derivation, Characterization and Differentiation

(Submitter supplied) Induced pluripotent stem cells (iPSCs) have become an essential tool for both modeling how causal genetic variants impact cellular function in disease, as well as being an emerging source of tissue for transplantation medicine. Unfortunately the preparation of somatic cells, their reprogramming and the subsequent verification of iPSC pluripotency are laborious, manual processes that limit the scale and level of reproducibility of this technology. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20333
18 Samples
Download data: TXT
Series
Accession:
GSE69868
ID:
200069868
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Supplemental Content

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