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Methods in Molecular Biology Ser.: Genomic Structural Variants : Methods and Protocols by Lars Feuk (2012, Hardcover)

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Genomic Structural Variants : Methods and Protocols, Hardcover by Feuk, Lars (EDT), ISBN 1617795062, ISBN-13 9781617795060, Brand New, Free shipping in the US This book reviews progress in the understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays to current sequencing strategies. Covers major research and diagnostic technologies, and more.

About this product

Product Identifiers

PublisherHumana Press

ISBN-101617795062

ISBN-139781617795060

eBay Product ID (ePID)110917692

Product Key Features

Number of PagesXi, 389 Pages

Publication NameGenomic Structural Variants : Methods and Protocols

LanguageEnglish

SubjectLife Sciences / Molecular Biology, Genetics, Life Sciences / Biology

Publication Year2012

TypeTextbook

AuthorLars Feuk

Subject AreaScience, Medical

SeriesMethods in Molecular Biology Ser.

FormatHardcover

Dimensions

Item Weight33.4 Oz

Item Length10 in

Item Width7 in

Additional Product Features

Intended AudienceScholarly & Professional

LCCN2011-944357

Dewey Edition23

Series Volume Number838

Number of Volumes1 vol.

IllustratedYes

Dewey Decimal576.54078

Table Of ContentWhat Have Studies of Genomic Disorders Taught us about our Genome.- Microdeletion and Microduplication Syndromes.- Structural Genomic Variation in Mental Retardation.- Copy Number Variation and Psychiatric Disease Risk.- Detection and Characterization of Copy Number Variation (CNV) in Autism Spectrum Disorder (ASD).- Structural Variation in Subtelomeres.- Array Based Approaches in Prenatal Diagnosis.- Structural Variation and its Effect on Expression.- The Challenges of Studying Complex and Dynamic Regions of the Human Genome.- Population Genetic Nature of Copy Number Variation.- Detection and Interpretation of Genomic Structural Variation in Mammals.- Structural Genetic Variation in the Context of Somatic Mosaicism.- Online Resources for Genomic Structural Variation.- Algorithm Implementation for CNV Discovery using Affymetrix and Ilumina SNP Array Data.- Targeted Screening and Validation of Copy Nuber Variations.- High-resolution Copy Number Profiling by Array CGH using DNA Isolated from Formalin-Fixed Paraffin-Embedded Tissues.- Characterizing and Interpreting Genetic Variation from Personal Genome Sequencing.- Massively Parallel Sequencing Approaches for Characterization of Structural Variation.

Synopsis1. 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, This book reviews progress in the understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays to current sequencing strategies. Covers major research and diagnostic technologies, and more., 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(tm) 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., 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.

LC Classification NumberRB155-155.8