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Items: 1 to 20 of 726

1.

Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS

(Submitter supplied) Gene chip analysis was performed using the Infinium OmniZhongHua-8 v1.3 BeadChip (Ilumina, Inc.). This method is used to detect ~240 CNV-affected genetic diseases/regions, including uniparental disomy and polyploidy. To identify copy number and CNV variations on chromosome 3 and in the vicinity of VHL, compared to a new assay called MLPA-NGS, we analysed individual hybridizations conducted on Infinium OmniZhongHua-8 v1.3 BeadChip (Ilumina, Inc.). more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL20166
3 Samples
Download data: IDAT, TXT
Series
Accession:
GSE294798
ID:
200294798
2.

Genotyping of Infinium OmniZhongHua BeadChip from Illumina for haplotype construction

(Submitter supplied) SNP array using HumanOmniZhongHua-8 BeadChip showed that Thai haplotype containing the (TTTCA)n insertion region was found to be shared among all Japanese Chinese and Thai pedigrees.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20166
8 Samples
Download data: IDAT, TXT
Series
Accession:
GSE148708
ID:
200148708
3.

Genome-wide Investigation of Population Structure in Myanmar

(Submitter supplied) Myanmar locates in the crossroads of South Asia, Southeast Asia, and East Asia, and is known for high culture diversity in different ethnic groups. It is considered to be important for understanding human evolutionary history and genetic diversity in East Eurasia. However, relatively few studies have examined the population structure and demographic history in Myanmar to date. In this study, we analyzed more than 220,000 genome-wide SNPs in 175 new samples of five ethnic groups from Myanmar and compared them with the published data. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL20166
240 Samples
Download data: IDAT, TXT
Series
Accession:
GSE74100
ID:
200074100
4.

High malignant potential of betel quid-associated oral verrucous hyperplasia

(Submitter supplied) Objectives. Oral verrucous hyperplasia (OVH) is commonly observed in the oral cavity of betel quid chewers that histologically display epithelial hyperplasia with or without dysplasia. Because of the high frequency of synchronous OVH adjacent to oral carcinomas, OVH is considered a potential malignant disorder, and studies of prognostic factors and genetic alterations are required. Materials and Methods. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL20166
8 Samples
Download data: TXT, XLSX
Series
Accession:
GSE101761
ID:
200101761
5.

Genome-wide association study on craniofacial microsomia

(Submitter supplied) Craniofacial microsomia encapsulates congenital anomalies of the external and middle ear, maxilla, mandible, facial and trigeminal nerves, and surrounding soft tissues on the affected side. The recruitment of craniofacial microsomia samples is a huge problem to bind the investigation of its genetic basis because of the lower prevalence rate (ranging between 1 and 4 per 10,000 births) and consultation rate. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platforms:
GPL20166 GPL19864
939 Samples
Download data: IDAT, TXT
Series
Accession:
GSE69664
ID:
200069664
6.

Copy number variation analysis of human Barrett's esophagus stem cells

(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
Platforms:
GPL20166 GPL19864
61 Samples
Download data: IDAT
Series
Accession:
GSE68664
ID:
200068664
7.

Copy number variation analysis of human Barrett's esophagus stem cells (HumanOmniZhongHua-8 v1.0 Beadchip)

(Submitter supplied) Barrett’s esophagus confers significant risk of esophageal adenocarcinoma. We have established the cloning system of patient-matched stem cells of Barrett’s esophagus and gastric cardia. Barrett's esophagus (BE) stem cells and gastric cardia (GC) stem cells from 12 patients were cloned. To analyze copy number variation in BE and GC stem cells, we have performed SNP array. It has shown that deletions such as p16 and FHIT in BE stem cells are significantly detected, while amplifications in BE stem cells are not. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20166
8 Samples
Download data: CSV, IDAT
Series
Accession:
GSE68662
ID:
200068662
8.

Identification of loci and signaling pathways associated with ITP using pooling genome-wide association study in Han Chinese

(Submitter supplied) Immune thrombocytopenia (ITP) is an autoimmnue bleeding disorder characterized by low platelet count. To identify susceptibility loci for disease progression of ITP, we performed this genome-wide association study using DNA pools of 200 ITP cases and 200 controsl in Han Chinese. Performing GWAS on pools of DNA samples is an effective strategy to reduce the costs of studies and pooling DNA has been shown to be an efficient method to select candidate susceptibility loci for follow-up by individual genotyping.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL20166
4 Samples
Download data: TXT
Series
Accession:
GSE76744
ID:
200076744
9.

Illumina HumanOmniZhongHua-8 v1.0 Beadchip

(Submitter supplied) see manufacturer's website
Organism:
Homo sapiens
8 Series
717 Samples
Download data: CSV
Platform
Accession:
GPL20166
ID:
100020166
10.

PB_qinMa

Organism:
Homo sapiens
Source name:
Peripheral blood, qinMa
Platform:
GPL20166
Series:
GSE294798
Download data: IDAT
Sample
Accession:
GSM8919952
ID:
308919952
11.

PB_qinFa

Organism:
Homo sapiens
Source name:
Peripheral blood, qinFa
Platform:
GPL20166
Series:
GSE294798
Download data: IDAT
Sample
Accession:
GSM8919951
ID:
308919951
12.

PB_qin_proband

Organism:
Homo sapiens
Source name:
Peripheral blood, qin, proband
Platform:
GPL20166
Series:
GSE294798
Download data: IDAT
Sample
Accession:
GSM8919950
ID:
308919950
13.

Control [204013970051_R06C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4477001
ID:
304477001
14.

BAFME1 [204013970051_R03C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4477000
ID:
304477000
15.

BAFME1 [202966740033_R01C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476999
ID:
304476999
16.

BAFME1 [204013970051_R02C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476998
ID:
304476998
17.

BAFME1 [204013970051_R01C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476997
ID:
304476997
18.

Control [204013970051_R04C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476996
ID:
304476996
19.

BAFME1 [202966740033_R02C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476995
ID:
304476995
20.

BAFME1 [204013970051_R05C01]

Organism:
Homo sapiens
Source name:
Peripheral blood leucocytes
Platform:
GPL20166
Series:
GSE148708
Download data: IDAT
Sample
Accession:
GSM4476994
ID:
304476994
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