Methods in Molecular Biology

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 Sjodin 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