GEO DataSets

(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) 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) 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 chromosome 9q

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL19706

3 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:

GPL16131 GPL3718

14 Samples

Download data: CEL, CHP, CYCHP

(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) 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:

GPL26059 GPL26057 GPL26058

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) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

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

8 related Platforms

52 Samples

Download data: CEL, CYCHP, GFF, IDAT, PAIR, TXT

(Submitter supplied) We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.

Organism:

Homo sapiens

Type:

Genome variation profiling by array; Genome variation profiling by genome tiling array

4 related Platforms

25 Samples

Download data: TXT

(Submitter supplied) We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL15746

9 Samples

Download data: GFF, PAIR

(Submitter supplied) We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.

Organism:

Homo sapiens

Type:

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

Platforms:

GPL8882 GPL21135

13 Samples

Download data: IDAT, TXT

(Submitter supplied) We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array; Genome variation profiling by genome tiling array

Platform:

GPL16131

5 Samples

Download data: CEL, CYCHP

(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) DNA replication stress (DRS)-linked genomic instability has emerged as an important factor driving cancer development. To understand the mechanisms of DRS-associated genomic instability and phenotypic evolution, we mapped chromosomal alterations in a yeast strain with lowered expression of the replicative DNA polymerase δ. At a whole-genome level, we identified both hotspots of mitotic recombination and chromosome-specific aneuploidy dependent on decreased levels of DNA polymerase δ. more...

Organism:

Saccharomyces cerevisiae

Type:

Genome variation profiling by genome tiling array; Genome variation profiling by SNP array

Platforms:

GPL21553 GPL21552 GPL20144

109 Samples

Download data: GPR, TXT