Project name: Homo sapiens

Description: This series represent the data set belonging to the publication by de Vries et al. Diagnostic genome profiling in mental retardation. American Journal of Human Genetics, vol 77: 606-616 (2005). In this study 100 patients with unexplained mental retardation were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BACs.Keywords: CGHOverall design: See de Vries et al. Diagnostic genome profiling in mental retardation. American Journal of Human Genetics, vol 77: 606-616 (2005). In brief, each patient was hybridized in duplicate with label swap onto the tiling resolution BAC arrays. DNA from 72 parents was hybridized once to the same array in order to distinguish between disease-causing alterations and normal copy number variations. De novo alterations were validated by FISH and MLPA.

Data type: Variation

Sample scope: Multiisolate

Relevance: Medical

Release date: 2005-09-16

Last updated: 2005-08-24