Unit

UNIT 8.12 Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation

  1. David T. Miller1,2,3,
  2. Yiping Shen1,3,4,
  3. Bai-Lin Wu1,3

Published Online: 1 JUL 2008

DOI: 10.1002/0471142905.hg0812s58

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Miller, D. T., Shen, Y. and Wu, B.-L. 2008. Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation. Current Protocols in Human Genetics. 58:8.12:8.12.1–8.12.17.

Author Information

  1. 1

    Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts

  2. 2

    Division of Genetics, Children's Hospital Boston, Boston, Massachusetts

  3. 3

    Harvard Medical School, Boston, Massachusetts

  4. 4

    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts

Publication History

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

This is not the most recent version of the article. View current version (1 JUL 2012)

Abstract

Detection of genomic copy number variation is now considered the standard of care in the evaluation of children with developmental delay, and is used for other clinical indications such as multiple congenital anomalies and autism spectrum disorders. Fluorescence in situ hybridization (FISH) was the first molecular method for detection of submicroscopic genomic copy number variation, but microarray based comparative genomic hybridization (array CGH) offers several advantages as an adjunct to traditional cytogenetic methods such as karyotype and FISH. This unit focuses on oligonucleotide arrays, but includes background information on basic differences between oligonucleotide arrays and bacterial artificial chromosome (BAC) arrays. Array sensitivity is influenced by probe coverage or density, probe location, and choice of oligo array formats (i.e., targeted versus whole genome). Array platform influences the likelihood of detecting variants of unknown significance. Clinical interpretation of such variants is discussed. Curr. Protoc. Hum. Genet. 58:8.12.1-8.12.17. © 2008 by John Wiley & Sons, Inc.

Keywords:

  • copy number variant;
  • CNV;
  • genomic imbalance;
  • molecular diagnostics;
  • array CGH;
  • aCGH