GSE120624 Affymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples

Contributors : Eun H Cho ; Junnam LeeSeries Type : Genome variation profiling by SNP array ; Genome variation profiling by genome tiling arrayOrganism : Homo sapiensChromosomal microdeletions/microduplications (CMM) have been associated with various neurological and developmental disorders and chromosomal microarray (CMA) is a method of choice to diagnose CMM syndromes. Recently, next-generation sequencing (NGS)-based low-coverage whole genome sequencing (LC-WGS) has been applied to detect CMM. This dataset is intended to be used as a “Golden standard data set” for development of LC-WGS analysis method. It consists of patients (n=63) who have a mental delay and/or physical disability phenotype and normal (n=20) phenotype.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome variation profiling by SNP array Genome variation profiling by genome tiling array Homo sapiens Source Type: research