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Items: 1 to 20 of 192

1.

Quartet Methylomics

(Submitter supplied) The Quartet Project aims to provide resources for QC of multiple types of omic technologies and the effective integration of diverse datasets from various scenarios. Large quantities of multi-omics materials, datasets, and best practices for their QC utilities were developed for whole process QC of large-scale, multi-center, and longitudinal multi-omics profiling.
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL19718
117 Samples
Download data: CSV, IDAT
Series
Accession:
GSE241900
ID:
200241900
2.

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome variation profiling by SNP array; SNP genotyping by SNP array
4 related Platforms
74 Samples
Download data: IDAT
Series
Accession:
GSE207114
ID:
200207114
3.

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta [CytoSNP-850k]

(Submitter supplied) Mammalian sex chromosomes encode homologous X/Y gene pairs that were retained on the male Y and escape X chromosome inactivation (XCI) in females. Inferred to reflect X/Y-pair dosage sensitivity, monosomy X is a leading cause of miscarriage in humans with near full penetrance. This phenotype is shared with many other mammals but not the mouse, which offers sophisticated genetic tools to generate sex chromosomal aneuploidy but also tolerates its developmental impact. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL19718
12 Samples
Download data: IDAT, TXT
Series
Accession:
GSE207107
ID:
200207107
4.

The evolution of MET and NRAS gene amplification as sequential acquired resistance mechanisms in a patient with EGFR mutation positive non-small cell lung cancer

(Submitter supplied) EGFR mutant non-small cell lung cancer patients disease demonstrates remarkable responses to EGFR targeted therapy, but inevitably they succumb to acquired resistance, which can be complex and difficult to treat. Analyzing acquired resistance through broad molecular testing is crucial to understanding the resistance mechanisms and developing new treatment options. We performed diverse clinical testing on a patient with successive stages of acquired resistance, first to an EGFR inhibitor with MET gene amplification and then subsequently to combination EGFR and MET targeted therapies. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL19718
1 Sample
Download data: CSV, IDAT, XLSX
Series
Accession:
GSE180894
ID:
200180894
5.

Selumetinib

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome variation profiling by SNP array; SNP genotyping by SNP array
Platforms:
GPL19718 GPL18573 GPL16791
133 Samples
Download data: IDAT
Series
Accession:
GSE168604
ID:
200168604
6.

Gene copy number variation profiling by microarray

(Submitter supplied) Here, we investigate focal amplification patterns in and around the BRAF locus in BRAFV600Emutant COLO205 cells that acquire resistance to the MEK inhibitor Sleumetinib / AZD6244 / ARRY-142886. We find that BRAF amplifications occur frequently in COLO205 cells during acquisition of selumetinib resistance and that BRAFamplifications pre-exist selumetinib treatment but occurs predominantly via de novo mutations
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL19718
16 Samples
Download data: IDAT, TXT
Series
Accession:
GSE168603
ID:
200168603
7.

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
8.

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans [IlluminaCytoSNP850K]

(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:
GPL19718
2 Samples
Download data: IDAT, TXT
Series
Accession:
GSE96723
ID:
200096723
9.

De Novo Copy Number Variations (CNVs) in ESC Derived from Intact and ST Blastocysts

(Submitter supplied) Because ST embryos may be at risk of procedure related chromosomal or sub-chromosomal abnormalities, we biopsied and examined expanded blastocysts derived from ST and control embryos. We examined copy number variations (CNVs) by SNP array to explore possible subchromosomal abnormalities (deletion or duplication) in selected ST ESCs. De novo CNVs were detected in both ST and intact controls but none carried clinical significance (Table S3 in the Supplementary Appendix).
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL19718
12 Samples
Download data: IDAT, TXT
Series
Accession:
GSE87897
ID:
200087897
10.

Modifying DNA extraction protocol alters human brain copy number estimation

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by array; SNP genotyping by SNP array
Platforms:
GPL20732 GPL20731 GPL19718
40 Samples
Download data: IDAT, TXT
Series
Accession:
GSE71470
ID:
200071470
11.

Infinium 850k Beadchip analysis of control human brain for copy number mosaicism

(Submitter supplied) Copy number mosaicism in the human brain has been reported recently by several authors. This experiment was performed to further investigate our preliminary data of apparent widespread deletions in brain DNA, detected in a custom Agilent aCGH designed for Parkinson's disease (PD) genes in both patients and controls, and supported by droplet digital PCR. To avoid any effect of diseased tissue, we used only controls here. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL19718
7 Samples
Download data: IDAT, TXT
Series
Accession:
GSE71429
ID:
200071429
12.

Induced genomic rearrangements and chromothripsis by micronucleus-mediated chromosome transfer

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platforms:
GPL13829 GPL19718
38 Samples
Download data
Series
Accession:
GSE71979
ID:
200071979
13.

Induced genomic rearrangements and chromothripsis by micronucleus-mediated chromosome transfer [850K]

(Submitter supplied) Chromosome segregation errors have been linked to DNA damage and genomic rearrangements. Accumulating evidence has shown that catastrophic genomic rearrangements, like chromothripsis, can result from lagging chromosomes undergoing aberrant DNA replication and DNA damage in micronuclei. Detailed characterization of genomic rearrangements resulting from DNA damage in micronuclei has been hampered because of difficulties in culturing daughter cells with DNA damage. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL19718
4 Samples
Download data: TXT
Series
Accession:
GSE71928
ID:
200071928
14.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

(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; Genome variation profiling by genome tiling array
Platforms:
GPL6985 GPL19718 GPL8693
10 Samples
Download data: TXT
Series
Accession:
GSE65454
ID:
200065454
15.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring [case 1]

(Submitter supplied) Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL19718
5 Samples
Download data: TXT
Series
Accession:
GSE65451
ID:
200065451
16.

IIllumina Infinium human CytoSNP-850K BeadChip

(Submitter supplied) See manufacturer's website
Organism:
Homo sapiens
15 Series
176 Samples
Download data: CSV
Platform
Accession:
GPL19718
ID:
100019718
17.

Quartet_methy_850K_SNT_NIST_3_20191026

Organism:
Homo sapiens
Source name:
genomic DNA from B lymphocyte
Platform:
GPL19718
Series:
GSE241900
Download data: IDAT
Sample
Accession:
GSM7745303
ID:
307745303
18.

Quartet_methy_850K_SNT_NIST_2_20191026

Organism:
Homo sapiens
Source name:
genomic DNA from B lymphocyte
Platform:
GPL19718
Series:
GSE241900
Download data: IDAT
Sample
Accession:
GSM7745302
ID:
307745302
19.

Quartet_methy_850K_SNT_NIST_1_20191026

Organism:
Homo sapiens
Source name:
genomic DNA from B lymphocyte
Platform:
GPL19718
Series:
GSE241900
Download data: IDAT
Sample
Accession:
GSM7745301
ID:
307745301
20.

Quartet_methy_850K_SNT_M8_3_20191026

Organism:
Homo sapiens
Source name:
genomic DNA from B lymphocyte
Platform:
GPL19718
Series:
GSE241900
Download data: IDAT
Sample
Accession:
GSM7745300
ID:
307745300
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