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

doi:10.1101/gr.5630906

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Article

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

Genome research - 1 Dec 2006

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 excerpt

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...

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PMID: 17122085
DOI: 10.1101/gr.5630906
PMCID: PMC1665640

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