GSM4112778[Accession] - GEO DataSets

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Items: 3

Select item 2001385421.

High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain

(Submitter supplied) 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. more...

Organism:: Homo sapiens

Type:: Genome variation profiling by genome tiling array

Platform:: GPL27580
50 Samples

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Accession:: GSE138542

ID:: 200138542

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 1000275802.

Agilent-024241 Xq22_44K Tiling array (Probe Name version)

(Submitter supplied) We designed a tiling-path oligonucleotide microarray spanning 15.5 Mb involving the PLP1 region on Xq22. The custom 4x44k Agilent Technologies microarray was designed using the Agilent earray website. We selected 44,000 probes covering chrX: 98,028,855-113,513,744 (NCBI build 37), including the PLP1 gene, which represents an average distribution of 1 probe per 386 bp. Each patient sample was run once using this array; hybridization was done using a gender-matched reference sample. more...