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Comparative genomic hybridization of human blood samples spiked with one or two copies of individual human chromosomes to assess array performance

ABSTRACT: Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. 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 falsepositive/negative rates was carried out using self-self hybridizations, replicate experiments and independent validations of CNVs.

ORGANISM(S): Homo sapiens

SUBMITTER: Armand Valsesia 

PROVIDER: E-TABM-124 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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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  ...[more]

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