21. Impact of Genomewide Structural Variation on Gene Discovery

  1. Weikuan Gu2 and
  2. Yongjun Wang3
  1. Lisenka E. L. M. Vissers and
  2. Joris A. Veltman

Published Online: 10 FEB 2012

DOI: 10.1002/9780470933947.ch21

Gene Discovery for Disease Models

Gene Discovery for Disease Models

How to Cite

Vissers, L. E. L. M. and Veltman, J. A. (2011) Impact of Genomewide Structural Variation on Gene Discovery, in Gene Discovery for Disease Models (eds W. Gu and Y. Wang), John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/9780470933947.ch21

Editor Information

  1. 2

    Department of Orthopedic Surgery—Campbell Clinic, University of Tennessee Health Science Center, Memphis, TN, USA

  2. 3

    Beijing Tiantan Hospital, Capital Medical University, Beijing, China

Author Information

  1. Radboud University Nijmegen Medical Centre, Nijmegen Centre of Molecular Life Sciences, Department of Human Genetics, Nijmegen, The Netherlands

Publication History

  1. Published Online: 10 FEB 2012
  2. Published Print: 21 MAR 2011

ISBN Information

Print ISBN: 9780470499467

Online ISBN: 9780470933947

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Keywords:

  • impact of genomewide structural variation on gene discovery - human genomic variation, as SNPs and variable number of tandem repeats (VNTRs);
  • basic concept for disease gene discovery - through genomewide profiling strategies, phenotypic spectrum and single gene malfunction;
  • disease gene identification for diseases - identifying disease genes through CNV mapping

Summary

This chapter contains sections titled:

  • A Historical Perspective of the Detection of Genomewide Structural Variation and Its Relevance to Disease

  • The Basic Concept for Disease Gene Discovery through Genomewide Profiling Strategies

  • Disease Gene Discovery through Genomewide Profiling Strategies

  • Disease Gene Identification for Common Diseases

  • Discriminating the Disease-Related CNV from All Normal CNVs

  • Next-Generation Sequencing for the Detection of Structural Variation

  • Conclusion

  • Questions and Answers

  • Acknowledgments

  • References