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| Status |
Public on Oct 09, 2019 |
| Title |
High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
|
| Summary |
We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis. Analysis of these data enabled the spectrum and relative distribution of the underlying genomic mutational signatures to be delineated. Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis.
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| |
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| Overall design |
The goal of this experiment was to determine the size, genomic extent and gene content of each Xq22 rearrangement.
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| |
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| Contributor(s) |
Bahrambeigi V, Lupski JR, Hobson G |
| Citation(s) |
31818324 |
| Submission date |
Oct 07, 2019 |
| Last update date |
Dec 17, 2019 |
| Contact name |
Vahid Bahrambeigi |
| E-mail(s) |
vahid.bahrambeigi@uth.tmc.edu
|
| Phone |
8327988479
|
| Organization name |
Baylor College Of Medicine
|
| Department |
Human Molecular Genetics
|
| Lab |
James R. Lupski
|
| Street address |
1 Baylor Plaza
|
| City |
Houston |
| State/province |
Texas |
| ZIP/Postal code |
77030 |
| Country |
USA |
| |
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| Platforms (1) |
| GPL27580 |
Agilent-024241 Xq22_44K Tiling array (Probe Name version) |
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| Samples (50)
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| Relations |
| BioProject |
PRJNA576488 |
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