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

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

PROVIDER: PRJNA576488 | ENA |

REPOSITORIES: ENA

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

Project description: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.

2019-10-09 | GSE138542 | GEO

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

Project description:High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

| PRJNA213937 | ENA

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 1)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement. We designed a tiling-path oligonucleotide microarray spanning 4.6 Mb surrounding the MECP2 region on Xq28. The custom 4x44k Agilent Technologies microarray was designed using the Agilent earray website. We selected 22,000 probes covering ChrX: 150,000,000-154,600,000 (NCBI build 36), including the MECP2 gene, which represents an average distribution of 1 probe per 209 bp. Each patient sample was run once using this array; hybridization was done using a gender-matched reference sample.

2013-08-02 | E-GEOD-49440 | biostudies-arrayexpress

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 2)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement. We designed a tiling-path oligonucleotide microarray spanning 4.0 Mb surrounding the MECP2 region on Xq28. The custom 4x44k Agilent Technologies microarray was designed using the Agilent earray website. We selected 22,000 probes covering ChrX: 150,400,000-154,400,000 (NCBI build 35), including the MECP2 gene, which represents an average distribution of 1 probe per 500 bp. Each patient sample was run once using this array; hybridization was done using a gender-matched reference sample.

2013-08-02 | E-GEOD-49446 | biostudies-arrayexpress

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

Project description:This SuperSeries is composed of the SubSeries listed below.

2013-08-02 | GSE49447 | GEO

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 2)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

2013-08-02 | GSE49446 | GEO

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 1)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

2013-08-02 | GSE49440 | GEO

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2013-08-02 | E-GEOD-49447 | biostudies-arrayexpress

Homo sapiens

Project description:High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 2)

| PRJNA213945 | ENA

Homo sapiens

Project description:High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 1)

| PRJNA213953 | ENA

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