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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| Format: | Électronique eBook |
| Langue: | English |
| Publié: |
Totowa, NJ :
Humana Press : Imprint: Humana,
2012.
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| Édition: | 1st ed. 2012. |
| Collection: | Methods in Molecular Biology,
838 |
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| Accès en ligne: | https://doi.org/10.1007/978-1-61779-507-7 |
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Table des matières:
- 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.