GSM122475[Accession] - GEO DataSets

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Items: 3

Select item 2000053731.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

(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

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Accession:: GSE5373

ID:: 200005373

Select item 1000040102.

Eichler Segmental Duplication BAC array

(Submitter supplied) Standard glass microscope slides coated with chromium Protocol: Snijders AM, Segraves R, Blackwood S, Pinkel D, Albertson DG (2004) BAC microarray-based comparative genomic hybridization. Methods Mol Biol 256:39–56