UNIT 8.13 Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation
Published Online: 1 OCT 2008
Copyright © 2008 by John Wiley & Sons, Inc.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
Delaney, A. D., Qian, H., Friedman, J. M. and Marra, M. A. 2008. Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation. Current Protocols in Human Genetics. 59:8.13:8.13.1–8.13.16.
- Published Online: 1 OCT 2008
- Published Print: OCT 2008
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Diagnosing constitutional pathogenic copy number variants requires measuring the submicroscopic segmental chromosomal imbalance. The Affymetrix GeneChip mapping array has been used to measure duplication and deletion of genetic material in DNA samples. This protocol describes the measurement and analysis processes, specifically the computational analyses that are involved in identifying pathogenic copy number variants. Curr. Protoc. Hum. Genet. 59:8.13.1-8.13.16. © 2008 by John Wiley & Sons, Inc.
- chromosome aberrations;
- statistical analysis