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Status |
Public on Dec 20, 2007 |
Title |
Structural Variation of Chromosomes in Autism Spectrum Disorder. |
Organism |
Homo sapiens |
Experiment type |
Genome variation profiling by SNP array SNP genotyping by SNP array
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Summary |
Chromosomal abnormalities have been identified in some individuals with Autism Spectrum Disorder (ASD), but their full etiologic role is unknown. Submicroscopic copy number variation (CNV) represents a considerable source of genetic variation in the human genome that contributes to phenotypic differences and disease susceptibility. To explore the contribution CNV imbalances in ASD, we genotyped unrelated ASD index cases using the Affymetrix GeneChip® 500K single nucleotide polymorphism (SNP) mapping array. Keywords: Whole Genome Mapping SNP Genotyping Array
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Overall design |
DNA derived from blood or lymphopblasts was hybridized to Affymetrix GeneChip® 500K mapping arrays. In total, 426 unrelated probands were analyzed along with 232 parents (116 trios). NspI and StyI arrays were analyzed for CNV using a combination of DNA Chip Analyzer (dChip), Copy Number Analysis for GeneChip (CNAG), and Genotyping Microarray based CNV Analysis (GEMCA).
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Contributor(s) |
Scherer SW, Marshall CR |
Citation(s) |
18252227 |
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Submission date |
Oct 03, 2007 |
Last update date |
May 17, 2017 |
Contact name |
Christian R. Marshall |
URL |
http://www.tcag.ca/
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Organization name |
The Hospital for Sick Children
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Department |
Genetics & Genome Biology
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Street address |
101 College St.
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City |
Toronto |
State/province |
ON |
ZIP/Postal code |
M5G 1L7 |
Country |
Canada |
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Platforms (4)
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GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
GPL3720 |
[Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array |
GPL3811 |
Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP) |
GPL3812 |
Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP) |
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Samples (1318)
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Relations |
BioProject |
PRJNA102819 |
Supplementary file |
Size |
Download |
File type/resource |
GSE9222_GSM233256_GSM233305_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233306_GSM233355_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233356_GSM233405_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233406_GSM233455_RAW.tar |
1.3 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233456_GSM233505_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233506_GSM233555_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233556_GSM233605_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233606_GSM233655_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233656_GSM233705_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233706_GSM233755_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233756_GSM233805_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233806_GSM233855_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233856_GSM233905_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233906_GSM233955_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM233956_GSM234005_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234006_GSM234055_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234056_GSM234105_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234106_GSM234155_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234156_GSM234205_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234206_GSM234255_RAW.tar |
1.3 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234256_GSM234305_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234306_GSM234355_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234356_GSM234405_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234406_GSM234455_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234456_GSM234505_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234506_GSM234555_RAW.tar |
1.4 Gb |
(ftp)(http) |
TAR |
GSE9222_GSM234556_GSM252020_RAW.tar |
517.8 Mb |
(ftp)(http) |
TAR |
GSE9222_RAW.tar |
36.2 Gb |
(http)(custom) |
TAR (of CEL, CHP) |
GSE9222_README.txt |
1.0 Kb |
(ftp)(http) |
TXT |
Processed data included within Sample table |