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Series GSE138542 Query DataSets for GSE138542
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.
 
Overall design The goal of this experiment was to determine the size, genomic extent and gene content of each Xq22 rearrangement.
 
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
 
Platforms (1)
GPL27580 Agilent-024241 Xq22_44K Tiling array (Probe Name version)
Samples (50)
GSM4112757 PMD Patient BAB8920
GSM4112758 PMD Patient BAB8921
GSM4112759 PMD Patient BAB8922
Relations
BioProject PRJNA576488

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE138542_RAW.tar 234.6 Mb (http)(custom) TAR (of TXT)
Raw data provided as supplementary file
Processed data included within Sample table

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