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

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 hybridi

SUBMITTER: Fiegler H 

PROVIDER: S-EPMC1665640 | biostudies-literature | 2006 Dec

REPOSITORIES: biostudies-literature