Unit

UNIT 8.13 Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation

  1. Allen D. Delaney1,
  2. Hong Qian1,
  3. Jan M. Friedman2,
  4. Marco A. Marra1

Published Online: 1 OCT 2008

DOI: 10.1002/0471142905.hg0813s59

Current Protocols in Human Genetics

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.

Author Information

  1. 1

    Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada

  2. 2

    University of British Columbia, Children's & Womens's Hospital, Vancouver, British Columbia, Canada

Publication History

  1. Published Online: 1 OCT 2008
  2. Published Print: OCT 2008

This is not the most recent version of the article. View current version (1 APR 2015)

Abstract

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.

Keywords:

  • cytogenetics;
  • chromosome aberrations;
  • software;
  • statistical analysis