Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

ABSTRACT:

Background

Clinical laboratories are adopting array genomic hybridization as a standard clinical test. A number of whole genome array genomic hybridization platforms are available, but little is known about their comparative performance in a clinical context.

Methods

We studied 30 children with idiopathic MR and both unaffected parents of each child using Affymetrix 500 K GeneChip SNP arrays, Agilent Human Genome 244 K oligonucleotide arrays and NimbleGen 385 K Whole-Genome oligonucleotide arrays. We also determined whether CNVs called on these platforms were detected by Illumina Hap550 beadchips or SMRT 32 K BAC whole genome tiling arrays and tested 15 of the 30 trios on Affymetrix 6.0 SNP arrays.

Results

The Affymetrix 500 K, Agilent and NimbleGen platforms identifi

SUBMITTER: Tucker T 

PROVIDER: S-EPMC3076225 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature