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| Status |
Public on Oct 30, 2007 |
| Title |
Expression data from peripheral blood from healthy and predisposed individuals |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
Characterization of the underlying genetic defects in patients with a rare and peculiar phenotype is challenging. Here we have utilized whole genome expression profiling, and identified a homozygous germline mutation in the DDB2 gene in a patient with several facial tumors. The feasibility of using blood derived RNA, diminishing costs of the technology, and the limited number of samples needed provide this approach a powerful new tool that may substantially aid in such gene identification efforts.
Keywords: disease vs control
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| Overall design |
RNA from patient’s and his parents’ blood samples, as well as from twelve individuals available from other projects, were subjected to Human GeneChip U133 Plus 2.0 whole genome expression arrays (Affymetrix).
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| Contributor(s) |
Vahteristo P, Kokko A, Saksela O, Aittomäki K, Aaltonen LA |
| Citation(s) |
17660462 |
| Submission date |
Nov 22, 2006 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Antti Kokko |
| Organization name |
University of Helsinki
|
| Department |
Dept of Medical Genetics
|
| Lab |
Tumorigenesis group
|
| Street address |
POBOX 63 (Haartmaninkatu 8)
|
| City |
Helsinki |
| ZIP/Postal code |
00014 University of Helsinki |
| Country |
Finland |
| |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (15)
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| Relations |
| BioProject |
PRJNA99621 |
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