Author:
Fiegler Heike,Redon Richard,Andrews Dan,Scott Carol,Andrews Robert,Carder Carol,Clark Richard,Dovey Oliver,Ellis Peter,Feuk Lars,French Lisa,Hunt Paul,Kalaitzopoulos Dimitrios,Larkin James,Montgomery Lyndal,Perry George H.,Plumb Bob W.,Porter Keith,Rigby Rachel E.,Rigler Diane,Valsesia Armand,Langford Cordelia,Humphray Sean J.,Scherer Stephen W.,Lee Charles,Hurles Matthew E.,Carter Nigel P.
Abstract
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.
Publisher
Cold Spring Harbor Laboratory
Subject
Genetics(clinical),Genetics
Reference21 articles.
1. A genome-wide, end-sequenced 129Sv BAC library resource for targeting vector construction
2. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments;Charbonnier,;Cancer Res.,2000
3. Diabetes and obesity: the twin epidemics
4. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
5. Contiguation of bacterial clones;Humphray,;Methods Mol. Biol.,2001
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