Genomic Structural Variants : Methods and Protocols - Feuk, Lars.; SpringerLink (Online service) (Totowa, NJ : Humana Press : Imprint: Humana, 2012)
What 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.
Keywords: Human genetics; Medical genetics; Human Genetics; Gene Function