GEO DataSets

(Submitter supplied) Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic disorders. Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the human 2q13 region where low copy repeats (LCRs) are abundant. Loss of function of NPHP1 is responsible for approximately 85% of the NPHP1 cases - about 80% of such individuals carry a large recurrent homozygous NPHP1 deletion that occurs via non-allelic homologous recombination (NAHR) between two flanking directly oriented ~45 kb LCRs. more...

Organism:

Macaca mulatta; Gorilla gorilla; Pongo abelii; Homo sapiens; Papio anubis; Pan troglodytes

Type:

Genome variation profiling by genome tiling array

Platform:

GPL21019

32 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) This SuperSeries is composed of the SubSeries listed below.

Organism:

Pongo abelii; Macaca mulatta; Pan paniscus; Pongo pygmaeus pygmaeus; Homo sapiens; Pan troglodytes; Gorilla gorilla

Type:

Genome variation profiling by genome tiling array

Platforms:

GPL7749 GPL7748

47 Samples

Download data: PAIR

(Submitter supplied) Wilson and King were among the first to recognize that the extent of phenotypic change between humans and great apes was dissonant with the rate of molecular change. Proteins are virtually identical; cytogenetically there are few rearrangements that distinguish ape-human chromosomes; rates of single-basepair change and retroposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. more...

Organism:

Pongo abelii; Pan troglodytes; Pongo pygmaeus pygmaeus; Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platforms:

GPL7748 GPL7749

24 Samples

Download data: PAIR

(Submitter supplied) Wilson and King were among the first to recognize that the extent of phenotypic change between humans and great apes was dissonant with the rate of molecular change. Proteins are virtually identical; cytogenetically there are few rearrangements that distinguish ape-human chromosomes; rates of single-basepair change and retroposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. more...

Organism:

Pongo abelii; Macaca mulatta; Pan paniscus; Pongo pygmaeus pygmaeus; Homo sapiens; Pan troglodytes; Gorilla gorilla

Type:

Genome variation profiling by genome tiling array

Platforms:

GPL7749 GPL7748

23 Samples

Download data: PAIR

(Submitter supplied) Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome we investigated 130 regions which we hypothesized as candidates for novel genomic disorders 1. We tested 290 patients with mental retardation by BAC array CGH, identifying sixteen pathogenic rearrangements, including four patients with de novo microdeletions of 17q21.31. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array

Platform:

GPL4010

592 Samples

Download data: TXT

(Submitter supplied) While nucleotide-resolution maps of genomic structural variants (SVs) have provided insights into the origin and impact on phenotypic diversity in humans, comparable maps in nonhuman primates have thus far been lacking. Using massively parallel DNA sequencing we constructed fine-resolution, species-specific structural variation and segmental duplication maps for five chimpanzees, five orang-utans, and five rhesus macaques. more...

Organism:

Pongo abelii; Macaca mulatta; Pan troglodytes; Pongo pygmaeus

Type:

Genome variation profiling by genome tiling array

30 related Platforms

30 Samples

Download data: TXT