Accurate and reliable high-throughput detection of copy number variation in the human genome

• DOI: 10.1101/gr.5630906
• Publication Date: 2006-11-23T01:54:45Z
• Authors: Heike Fiegler; Richard Redon; Dan Andrews; Carol Scott; Robert Andrews; Carol Carder; Richard Clark; Oliver Dovey; Peter Ellis; Lars Feuk; Lisa French; Paul Hunt; Dimitrios Kalaitz...; James Larkin; Lyndal Montgomery; George H. Perry; Bob W. Plumb; Keith Porter; Rachel E. Rigby; Diane Rigler; Armand Valsesia; Cordelia Langford; Sean J. Humphray; Stephen W. Scherer; Charles Lee; Matthew E. Hurles; Nigel P. Carter
• Keywords: Replicate; Copy number analysis; Robustness

This study describes a new tool for accurate and reliable high-throughput detection of copy number variation in the human genome. We have constructed large-insert clone DNA microarray covering entire genome tiling path resolution that we used to identify populations. Crucial this has been development robust array platform analytic process automated identification variants (CNVs). The consists 26,574 clones 93.7% euchromatic regions. Clones were selected primarily from published “Golden Path,” mapping was confirmed by fingerprinting BAC-end sequencing. Array performance extensively tested series validation assays. These included determining hybridization characteristics each individual on chromosome-specific add-in experiments. Estimation data reproducibility false-positive/negative rates carried out using self–self hybridizations, replicate experiments, independent validations CNVs. Based these studies, developed variance-based automatic analysis (CNVfinder) demonstrated its robustness comparison with SW-ARRAY method.