RT Journal
A1 Fiegler, Heike
A1 Redon, Richard
A1 Andrews, Dan
A1 Scott, Carol
A1 Andrews, Robert
A1 Carder, Carol
A1 Clark, Richard
A1 Dovey, Oliver
A1 Ellis, Peter
A1 Feuk, Lars
A1 French, Lisa
A1 Hunt, Paul
A1 Kalaitzopoulos, Dimitrios
A1 Larkin, James
A1 Montgomery, Lyndal
A1 Perry, George H.
A1 Plumb, Bob W.
A1 Porter, Keith
A1 Rigby, Rachel E.
A1 Rigler, Diane
A1 Valsesia, Armand
A1 Langford, Cordelia
A1 Humphray, Sean J.
A1 Scherer, Stephen W.
A1 Lee, Charles
A1 Hurles, Matthew E.
A1 Carter, Nigel P.
T1 Accurate and reliable high-throughput detection of copy number variation in the human genome
JF Genome Research 
JO Genome Research 
YR 2006 
FD December 01 
VO 16 
IS 12 
SP 1566 
OP 1574 
DO 10.1101/gr.5630906 
UL http://genome.cshlp.org/content/16/12/1566.abstract 
AB This study describes a new tool for accurate and reliable high-throughput detection of copy number variation in the human genome. We have constructed a large-insert clone DNA microarray covering the entire human genome in tiling path resolution that we have used to identify copy number variation in human populations. Crucial to this study has been the development of a robust array platform and analytic process for the automated identification of copy number variants (CNVs). The array consists of 26,574 clones covering 93.7% of euchromatic regions. Clones were selected primarily from the published “Golden Path,” and mapping was confirmed by fingerprinting and BAC-end sequencing. Array performance was extensively tested by a series of validation assays. These included determining the hybridization characteristics of each individual clone on the array by chromosome-specific add-in experiments. Estimation of data reproducibility and false-positive/negative rates was carried out using self–self hybridizations, replicate experiments, and independent validations of CNVs. Based on these studies, we developed a variance-based automatic copy number detection analysis process (CNVfinder) and have demonstrated its robustness by comparison with the SW-ARRAY method.