Genomics

Dataset Information

40

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


ABSTRACT: Chromosomal copy number variations (CNV) have been associated with various neurological and developmental disorders and chromosomal microarray (CMA) is a method of choice to diagnose Copy Number Gain/Loss syndromes. Recently, next-generation sequencing (NGS)-based low-coverage whole genome sequencing (LC-WGS) has been applied to detect Copy Number Gain/Loss syndromes. 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. Overall design: CNV analysis using Affymetrix 750K and HD array was performed on 63 samples with developmental delay and/or physical disability phenotype. There are also 20 samples who were not diagnostic of any CNV disease and normal phenotype.

INSTRUMENT(S): [CytoScanHD_Array] Affymetrix CytoScan HD Array

SUBMITTER: Junnam Lee  

PROVIDER: GSE120624 | GEO | 2018-09-29

REPOSITORIES: GEO

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