Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.

@article{MarquisNicholson2013ArraybasedIO,
  title={Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.},
  author={Renate Marquis-Nicholson and Elaine Doherty and Jennifer M. Love and Chuan-Ching Lan and Alice M. George and Anthony Thrush and Donald R. Love},
  journal={Sultan Qaboos University medical journal},
  year={2013},
  volume={13 1},
  pages={69-79}
}
OBJECTIVES The aim of this study was to develop and validate a comparative genomic hybridisation (CGH) array that would allow simultaneous targeted analysis of a panel of disease genes and low resolution whole genome analysis. METHODS A bespoke Roche NimbleGen 12x135K CGH array (Roche NimbleGen Inc., Madison, Wisconsin, USA) was designed to interrogate the coding regions of 66 genes of interest, with additional widely-spaced backbone probes providing coverage across the whole genome. We… CONTINUE READING