Genomic structural variants : methods and protocols / edited by Lars Feuk. — New York : Humana Press, c2012. – (58.17/M592/v.838)

Contents

    Contents
    
    Preface
    Contributors
    1 What Have Studies of Genomic Disorders Taught Us About Our Genome?
    2 Microdeletion and Microduplication Syndromes 29
    3 Structural Genomic Variation in Intellectual Disability
    4 Copy Number Variation and Psychiatric Disease Risk
    5 Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder
    6 Structural Variation in Subtelomeres
    7 Array-Based Approaches in Prenatal Diagnosis
    8 Structural Variation and Its Effect on Expression
    9 The Challenges of Studying Complex and Dynamic Regions of the Human Genome.
    10 Population Genetic Nature of Copy Number Variation 209
    11 Detection and Interpretation of Genomic Structural Variation in Mammals 225
    12 Structural Genetic Variation in the Context of Somatic Mosaicism 249
    13 Online Resources for Genomic Structural Variation 273
    14 Algorithm Implementation for CNV Discovery Using Affymetrix and Illumina SNP Array Data 291
    15 Targeted Screening and Validation of Copy Number Variations 311
    16 High-Resolution Copy Number Profiling by Array CGH Using DNA Isolated from Formalin-Fixed， Paraffin-Embedded Tissues 329
    17 Characterizing and Interpreting Genetic Variation from Personal Genome Sequencing
    18 Massively Parallel Sequencing Approaches for Characterization of Structural Variation
    Index 385