Genomic Structural Variants: Methods and Protocols by Lars FeukGenomic Structural Variants: Methods and Protocols by Lars Feuk

Genomic Structural Variants: Methods and Protocols

EditorLars Feuk

Hardcover | January 7, 2012

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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 BiologyT 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.
Title:Genomic Structural Variants: Methods and ProtocolsFormat:HardcoverDimensions:397 pagesPublished:January 7, 2012Publisher:Humana PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:1617795062

ISBN - 13:9781617795060

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Table of Contents

1. What Have Studies of Genomic Disorders Taught us about our Genome                Alexandra D. Simmons N., Claudia M.B. Carvalho, and James R. Lupski 2. Microdeletion and Microduplication Syndromes                Lisenka E.L.M Vissers and Pawel Stankiewicz 3. Structural Genomic Variation in Mental Retardation                Rolph Pfundt and Joris A. Veltman 4. Copy Number Variation and Psychiatric Disease Risk                Rebecca J. Levy, Bin Xu, Joseph A. Gogos, and Maria Karayiorgou 5. Detection and Characterization of Copy Number Variation (CNV) in Autism Spectrum Disorder (ASD)                Christian R. Marshall and Stephen W. Scherer 6. Structural Variation in Subtelomeres                M. Katharine Rudd 7. Array Based Approaches in Prenatal Diagnosis                Paul D. Brady, Koenraad Devriendt, Jan Deprest, and Joris R. Vermeesch 8. Structural Variation and its Effect on Expression                Louise Harewood, Evelyne Chaignat, and Alexandre Reymond 9. The Challenges of Studying Complex and Dynamic Regions of the Human Genome                      Edward J. Hollox 10. Population Genetic Nature of Copy Number Variation                Per Sjödin and Mattias Jakobsson 11. Detection and Interpretation of Genomic Structural Variation in Mammals                Ira M. Hall and Aaron R. Quinlan 12. Structural Genetic Variation in the Context of Somatic Mosaicism                Jan P. Dumanski and Arkadiusz Piotrowski 13. Online Resources for Genomic Structural Variation                Tam P. Sneddon and Deanna M. Church 14. Algorithm Implementation for CNV Discovery using Affymetrix and Ilumina SNP Array Data                Laura Winchester and Jiannis Ragoussis 15. Targeted Screening and Validation of Copy Nuber Variations                Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero 16. High-resolution Copy Number Profiling by Array CGH using DNA Isolated from Formalin-Fixed Paraffin-Embedded Tissues                Hendrik F. B. van Essen and Bauke Ylstra 17. Characterizing and Interpreting Genetic Variation from Personal Genome Sequencing                Anna Johansson and Lars Feuk 18. Massively Parallel Sequencing Approaches for Characterization of Structural Variation                Daniel C. Koboldt, David E. Larson, Ken Chen, Li Ding, and Richard K. Wilson