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| Status |
Public on Jan 24, 2008 |
| Title |
The fine-scale and complex architecture of human copy number variation |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
Despite considerable excitement over the potential functional significance of copy number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions in the human genome. In this study, we used a high-resolution array-based comparative genomic hybridization (aCGH) platform that targeted known CNV regions of the human genome at ~1 kb resolution to interrogate the genomic DNAs of 30 individuals from four HapMap populations. Our results revealed that 1,020 of 1,153 CNV loci (88%) were actually smaller in size than what is recorded in the Database of Genomic Variants based on previously published studies. A reduction in size of more than 50% was observed for 876 CNV regions (76%). We conclude that the total genomic content of common human CNVs may be smaller than previously thought. In addition, approximately 8% of the CNV regions observed in multiple individuals exhibited genomic architectural complexity in the form of smaller CNVs within larger ones and CNVs with inter-individual variation in breakpoints. Future association studies that aim to capture the potential influences of CNVs on disease phenotypes will need to consider how to best ascertain this previously underappreciated complexity.
Keywords: comparative genomic hybridization
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| Overall design |
The DNA samples are a panel of 30 Hapmap samples, and a female sample NA15510 of undetermined geographic origin, which has been well characterized by fosmid-end sequencing (Tuzun et al. 2005, Nature Genetics 10, p1038). The DNA for this set of 16 female and 15 male samples are all supplied by the Coriell Cell Repository, and is comprised of samples from four populations: 10 unrelated Yoruban, 10 unrelated European-American individuals from Utah (CEPH), 5 unrelated Chinese, and 5 unrelated Japanese. The reference sample, NA10851 is also a male CEPH also from the HapMap Sample set (Corriel Cell Repository). Each of these samples was hybridized in pairs with the reversed labeling polarities. Additionally, 3 self-self control hybridizations were carried out for the reference sample, NA10851, one on each hybridization date. In the Title for each of the samples, each hybridization session is indicated by the letters A, B or C.
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| Contributor(s) |
Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada N, Soo PH, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C |
| Citation(s) |
18304495 |
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| Submission date |
Dec 10, 2007 |
| Last update date |
Mar 17, 2012 |
| Contact name |
Peter Tsang |
| E-mail(s) |
peter_tsang@agilent.com
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| Phone |
408-553-2917
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| Organization name |
Agilent Technologies
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| Department |
Agilent Labs
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| Street address |
5301 Stevens Creek Blvd.
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| City |
Santa Clara |
| State/province |
CA |
| ZIP/Postal code |
95051 |
| Country |
USA |
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| Platforms (2) |
| GPL6250 |
Agilent-015685 Custom Human 244K CGH Microarray |
| GPL6251 |
Agilent-015686 Custom Human 244K CGH Microarray |
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| Samples (144)
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| Relations |
| BioProject |
PRJNA103801 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE9831_RAW.tar |
3.3 Gb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
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