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Genomic Structural Variants Methods and Protocols /

The completion of a consensus draft sequence for the human genome was the starting point for more thorough investigations of individual genome variation.  The development of array-based strategies made it possible to look at our genome in new ways and for new types of variation to be discovered and...

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書目詳細資料
企業作者: SpringerLink (Online service)
其他作者: Feuk, Lars. (Editor, http://id.loc.gov/vocabulary/relators/edt)
格式: 電子 電子書
語言:English
出版: Totowa, NJ : Humana Press : Imprint: Humana, 2012.
版:1st ed. 2012.
叢編:Methods in Molecular Biology, 838
主題:
在線閱讀:https://doi.org/10.1007/978-1-61779-507-7
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書本目錄:
  • 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.