GEO DataSets

(Submitter supplied) The goal of this experiment was to determine the size, genomic extent and gene content of complex rearrangements involving chromosome 9q

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL19706

3 Samples

Download data: TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platforms:

GPL19705 GPL19706

12 Samples

Download data: TXT

(Submitter supplied) The goal of this experiment was to determine the size, genomic extent and gene content of complex rearrangements involving multiple chromosomes

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL19705

9 Samples

Download data: TXT

(Submitter supplied) These samples include 4 patients with a triplication/ROH combination on: (1) chromosome 6, (2) chromosom 9, (3) chromosome 10, (4) chromosome 14

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array; SNP genotyping by SNP array

Platforms:

GPL3718 GPL16131

14 Samples

Download data: CEL, CHP, CYCHP

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platforms:

GPL17522 GPL17521

31 Samples

Download data: TXT

(Submitter supplied) The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL17522

9 Samples

Download data: TXT

(Submitter supplied) The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL17521

22 Samples

Download data: TXT

(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

Download data: TXT

(Submitter supplied) In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with the disease in the families and the carrier mothers show a nonrandom X-inactivation. Affected males suffered from mild to moderate ID. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL14729

8 Samples

Download data: TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Genome variation profiling by array

Platforms:

GPL26058 GPL26057 GPL26059

126 Samples

Download data: TXT

(Submitter supplied) Human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used orthogonal long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. For non-recurrent events we found microhomology and microhomeology at the breakpoint junctions, an excess of deletion rearrangements on paternally-derived haplotypes, and elucidated recalcitrant breakpoints. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by array

Platform:

GPL26059

71 Samples

Download data: TXT

(Submitter supplied) Human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used orthogonal long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. For non-recurrent events we found microhomology and microhomeology at the breakpoint junctions, an excess of deletion rearrangements on paternally-derived haplotypes, and elucidated recalcitrant breakpoints. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by array

Platform:

GPL26058

24 Samples

Download data: TXT

(Submitter supplied) Human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used orthogonal long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. For non-recurrent events we found microhomology and microhomeology at the breakpoint junctions, an excess of deletion rearrangements on paternally-derived haplotypes, and elucidated recalcitrant breakpoints. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by array

Platform:

GPL26057

31 Samples

Download data: TXT

(Submitter supplied) We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics Laboratories using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). Custom high-density aCGH was performed on individuals with available DNA, and breakpoint junctions were fine-mapped at nucleotide resolution by long-range PCR and DNA sequencing to glean insights into potential mechanisms of formation.

Organism:

Homo sapiens

Type:

Genome variation profiling by array

4 related Platforms

8 Samples

Download data: TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Genome variation profiling by SNP array; Methylation profiling by array

Platforms:

GPL9183 GPL4091 GPL3720

148 Samples

Download data: CEL, TXT

(Submitter supplied) The aim of this study is to establish an integrative profiling of recurrent UPDs/UPPs, CNAs and genome-wide methylation status in sporadic CRC. Our results indicate that regions showing high frequencies of UPDs/UPPs mostly coincide with regions typically involved in genomic losses such as chromosome arms 1p, 5q, 8p, 14q, 17p, 18q, 20p, and 22q. Of these, chromosome arms 5q, 14q, 17p, and 20p preferentially showed UPDs/UPPs over genomic losses suggesting that tumor cells must maintain the disomic state of certain genes to favor cellular fitness. more...

Organism:

Homo sapiens

Type:

Methylation profiling by array

Platform:

GPL9183

58 Samples

Download data: TXT

(Submitter supplied) The aim of this study is to establish an integrative profiling of recurrent UPDs/UPPs, CNAs and genome-wide methylation status in sporadic CRC. Our results indicate that regions showing high frequencies of UPDs/UPPs mostly coincide with regions typically involved in genomic losses such as chromosome arms 1p, 5q, 8p, 14q, 17p, 18q, 20p, and 22q. Of these, chromosome arms 5q, 14q, 17p, and 20p preferentially showed UPDs/UPPs over genomic losses suggesting that tumor cells must maintain the disomic state of certain genes to favor cellular fitness. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL4091

30 Samples

Download data: TXT

(Submitter supplied) The aim of this study is to establish an integrative profiling of recurrent UPDs/UPPs, CNAs and genome-wide methylation status in sporadic CRC. Our results indicate that regions showing high frequencies of UPDs/UPPs mostly coincide with regions typically involved in genomic losses such as chromosome arms 1p, 5q, 8p, 14q, 17p, 18q, 20p, and 22q. Of these, chromosome arms 5q, 14q, 17p, and 20p preferentially showed UPDs/UPPs over genomic losses suggesting that tumor cells must maintain the disomic state of certain genes to favor cellular fitness. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Genome variation profiling by SNP array

Platform:

GPL3720

60 Samples

Download data: CEL, XLS

(Submitter supplied) Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyzed the genomes of ten patients with congenital disease that were preselected to carry complex chromosomal rearrangements (CCRs) with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Genome variation profiling by SNP array

Platforms:

GPL8855 GPL6985 GPL6979

13 Samples

Download data: TXT

(Submitter supplied) Identification of Acquired Copy Number Alterations and Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia Using High-Resolution Single Nucleotide Polymorphism Analysis Recent advances in genome-wide single nucleotide polymorphism (SNP) analyses have revealed previously unrecognized microdeletions and uniparental disomy (UPD) in a broad spectrum of human cancers. As acute myeloid leukemia (AML) represents a genetically heterogeneous disease, this technology might prove helpful especially for cytogenetically normal AML (CN-AML) cases. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

4 related Platforms

510 Samples

Download data: CEL, CHP, TXT