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
