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UNIT 8.14 Interpretation of Genomic Copy Number Variants Using DECIPHER

  1. Manuel Corpas1,
  2. Eugene Bragin1,
  3. Stephen Clayton1,
  4. Paul Bevan1,
  5. Helen V. Firth1,2

Published Online: 1 JAN 2012

DOI: 10.1002/0471142905.hg0814s72

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Corpas, M., Bragin, E., Clayton, S., Bevan, P. and Firth, H. V. 2012. Interpretation of Genomic Copy Number Variants Using DECIPHER. Current Protocols in Human Genetics. 72:8.14:8.14.1–8.14.17.

Author Information

  1. 1

    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom

  2. 2

    Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom

Publication History

  1. Published Online: 1 JAN 2012
  2. Published Print: JAN 2012

Abstract

Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression. Many of these changes are novel or extremely rare, making clinical interpretation problematic and genotype/phenotype correlations difficult. Identification of patients sharing a genomic rearrangement and having phenotypes in common increases certainty in the diagnosis and allows characterization of new syndromes. The DECIPHER database is an online repository of genotype and phenotype data whose chief objective is to facilitate the association of genomic variation with phenotype to enable the clinical interpretation of copy number variation (CNV). This unit shows how DECIPHER can be used to (1) search for consented patients sharing a defined chromosomal location, (2) navigate regions of interest using in-house visualization tools and the Ensembl genome browser, (3) analyze affected genes and prioritize them according to their likelihood of haploinsufficiency, (4) upload patient aberrations and phenotypes, and (5) create printouts at different levels of detail. By following this protocol, clinicians and researchers alike will be able to learn how to characterize their patients' chromosomal imbalances using DECIPHER. Curr. Protoc. Hum. Genet. 72:8.14.1-8.14.17 © 2012 by John Wiley & Sons, Inc.

Keywords:

  • copy number variation;
  • clinical genetics;
  • array CGH;
  • genotype;
  • phenotype;
  • developmental disorders;
  • bioinformatics