GEO DataSets

(Submitter supplied) Developmental delay/intellectual disability (DD/ID)affects 2% of our population. However, mostpatients are often leftwithout aspecific diagnosis,with thecorresponding consequences for the patientsand their families. The application of microarray technology in the study of patients with DD/ID allows whole-genome analysis with a high resolutionand performance. Here we present the results of a case included in a series of 246 patients with DD/ID, as part of the screening of the genetic causes responsible for their phenotype.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL6801

1 Sample

Download data: CEL, CNCHP

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 (ucsc=hg18; ncbi=NCBI36) August 01, 2012: annotation table updated with netaffx build 32 (ucsc=hg19; ncbi=GRCh37) Protocol: see manufacturer's web site The new Affymetrix® Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation. more...

Organism:

Homo sapiens

404 Series

22859 Samples

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