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Methods in Molecular Biology

Genomic Structural Variants

Methods and Protocols

Editors: Feuk, Lars (Ed.)

  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts
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eBook $129.00
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  • ISBN 978-1-61779-507-7
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Hardcover $169.00
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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.

Table of contents (18 chapters)

  • What Have Studies of Genomic Disorders Taught Us About Our Genome?

    Simmons, Alexandra D. (et al.)

    Pages 1-27

  • Microdeletion and Microduplication Syndromes

    Vissers, Lisenka E. L. M. (et al.)

    Pages 29-75

  • Structural Genomic Variation in Intellectual Disability

    Pfundt, Rolph (et al.)

    Pages 77-95

  • Copy Number Variation and Psychiatric Disease Risk

    Levy, Rebecca J. (et al.)

    Pages 97-113

  • Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder

    Marshall, Christian R. (et al.)

    Pages 115-135

Buy this book

eBook $129.00
price for USA (gross)
  • ISBN 978-1-61779-507-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $169.00
price for USA
  • ISBN 978-1-61779-506-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Genomic Structural Variants
Book Subtitle
Methods and Protocols
Editors
  • Lars Feuk
Series Title
Methods in Molecular Biology
Series Volume
838
Copyright
2012
Publisher
Humana Press
Copyright Holder
Springer Science+Business Media, LLC
eBook ISBN
978-1-61779-507-7
DOI
10.1007/978-1-61779-507-7
Hardcover ISBN
978-1-61779-506-0
Series ISSN
1064-3745
Edition Number
1
Number of Pages
XI, 389
Topics