Genomic Structural Variants: Methods and Protocols

Book Overview

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 Sj?din 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

• Format: Paperback
• Language: English
• ISBN: 1493961896
• ISBN13: 9781493961894
• Release Date: August 2016
• Publisher: Humana
• Length: 389 Pages
• Weight: 1.52 lbs.
• Dimensions: 0.8" x 7.0" x 10.0"