title: Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.
abstract: OBJECTIVE
  To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications.
  
  
  METHODS
  We have developed a high-resolution comparative genomic hybridization array to detect single- and multiexon deletions and duplications in a large set of genes on a single microarray, using the NimbleGen 385K array with an exon-centric design.
  
  
  RESULTS
  We have successfully developed, validated, and implemented a targeted gene comparative genomic hybridization arrays for detecting single- and multiexon deletions and duplication in autosomal and X-linked disease-associated genes.
  
  
  CONCLUSIONS
  The comparative genomic hybridization arrays can be adopted readily by clinical molecular diagnostic laboratories as a rapid, cost-effective, highly sensitive, and accurate approach for the detection of single- and multiexon deletions or duplications, particularly in cases where direct sequencing fails to identify a mutation.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
authors.forename: Marwan K
authors.initials: MK
authors.lastname: Tayeh
authors.forename: Ephrem L H
authors.initials: EL
authors.lastname: Chin
authors.forename: Vanessa R
authors.initials: VR
authors.lastname: Miller
authors.forename: Lora J H
authors.initials: LJ
authors.lastname: Bean
authors.forename: Bradford
authors.initials: B
authors.lastname: Coffee
authors.forename: Madhuri
authors.initials: M
authors.lastname: Hegde
mesh_terms: D001483:Base Sequence; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D017353:Gene Deletion; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D015203:Reproducibility of Results