Article
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
BMC genomics - 16 Nov 2009
Friedman Jm, Adam Shelin, Arbour Laura, Armstrong Linlea, Baross Agnes, Birch Patricia, Boerkoel Cornelius, Chan Susanna, Chai David, Delaney Allen D, Flibotte Stephane, Gibson William T, Langlois Sylvie, Lemyre Emmanuelle, Li H Irene, MacLeod Patrick, Mathers Joan, Michaud Jacques L, McGillivray Barbara C, Patel Millan S, Qian Hong, Rouleau Guy A, Van Allen Margot I, Yong Siu-Li, Zahir Farah R, Eydoux Patrice, Marra Marco A
Abstract excerpt
BACKGROUND: Array genomic hybridization is being used clinically to detect pathogenic copy number variants in children with intellectual disability and other birth defects. However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use. RESULTS: We performed 500 K Affymetrix GeneChip array genomic hybridization...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.