Genomic Structural Variants

Methods and Protocols

  • Lars Feuk

Part of the Methods in Molecular Biology book series (MIMB, volume 838)

Table of contents

  1. Front Matter
    Pages i-xi
  2. Alexandra D. Simmons, Claudia M. B. Carvalho, James R. Lupski
    Pages 1-27
  3. Lisenka E. L. M. Vissers, Paweł Stankiewicz
    Pages 29-75
  4. Rolph Pfundt, Joris A. Veltman
    Pages 77-95
  5. Rebecca J. Levy, Bin Xu, Joseph A. Gogos, Maria Karayiorgou
    Pages 97-113
  6. Christian R. Marshall, Stephen W. Scherer
    Pages 115-135
  7. M. Katharine Rudd
    Pages 137-149
  8. Paul D. Brady, Koenraad Devriendt, Jan Deprest, Joris R. Vermeesch
    Pages 151-171
  9. Louise Harewood, Evelyne Chaignat, Alexandre Reymond
    Pages 173-186
  10. Per Sjödin, Mattias Jakobsson
    Pages 209-223
  11. Jan P. Dumanski, Arkadiusz Piotrowski
    Pages 249-272
  12. Tam P. Sneddon, Deanna M. Church
    Pages 273-289
  13. Shana Ceulemans, Karlijn van der Ven, Jurgen Del-Favero
    Pages 311-328
  14. Daniel C. Koboldt, David E. Larson, Ken Chen, Li Ding, Richard K. Wilson
    Pages 369-384
  15. Back Matter
    Pages 385-386

About this book


The completion of a consensus draft sequence for the human genome was the starting point for more thorough investigations of individual genome variation.  The development of array-based strategies made it possible to look at our genome in new ways and for new types of variation to be discovered and characterized. Characterization of copy number variation and other forms of structural genetic variation has highlighted the complexity of human genetic variation and also provided significant insight into the evolution and dynamic nature of our genome. Genomic Structural Variants: Methods and Protocols provides an in-depth description of the developments in our understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays up to current state-of-the-art sequencing strategies. It covers the major technologies used for research and diagnostics as well as web-based resources for variation data, and it then goes into depth regarding specific regions of the genome that differ in variation content. Specific patient groups where copy number variation has been shown to be of great importance are highlighted, and implications for both pre-natal and standard diagnostics are described. Written in the highly successful Methods in Molecular Biology™ series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls.


Authoritative and accessible, Genomic Structural Variants: Methods and Protocols provides complete comprehensive coverage of this burgeoning field.


copy number variation (CNV) genomic disorders genomic structural variation human genome personal genome sequencing

Editors and affiliations

  • Lars Feuk
    • 1
  1. 1.Dept. Immunology, Genetics & PathologyUppsala UniversityUppsalaSweden

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media, LLC 2012
  • Publisher Name Springer, New York, NY
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-61779-506-0
  • Online ISBN 978-1-61779-507-7
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals