Targeted Screening and Validation of Copy Number Variations
The accessibility of genome-wide screening technologies considerably facilitated the identification and characterization of copy number variations (CNVs). The increasing amount of available data describing these variants, clearly demonstrates their abundance in the human genome. This observation shows that not only SNPs, but also CNVs and other structural variants strongly contribute to genetic variation. Even though not all structural variants have an obvious phenotypic effect, there is evidence that CNVs influence gene dosage and hence can have profound effects on human disease susceptibility, disease manifestation, and disease severity. Therefore, CNV screening and analysis methodologies, specifically focusing on disease-related CNVs are actively progressing. This chapter specifically describes different techniques currently available for the targeted screening and validation of CNVs. We not only provide an overview of all these CNV analysis methods, but also address their strong and weak points. Methods covered include fluorescence in situ hybridization (FISH), quantitative real-time PCR (qPCR), paralogue ratio test (PRT), molecular copy-number counting (MCC), and multiplex PCR-based approaches, such as multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), multiplex PCR-based real-time invader assay (mPCR-RETINA), quantitative multiplex PCR of short fluorescent fragments (QMPSF), and multiplex amplicon quantification (MAQ). We end with some general remarks and conclusions, furthermore briefly addressing the future perspectives.
- Gene Expression Informatics
- Pattern Identification in Time-Course Gene Expression Data with the CoGAPS Matrix Factorization
- Detection of Point Mutations by Denaturing-Gradient Gel Electrophoresis
- Mutation Surveyor: An In Silico Tool for Sequencing Analysis
- Targeted Quantitation of Acetylated Lysine Peptides by Selected Reaction Monitoring Mass Spectrometry
- A Pitfall in Series of Microarrays: The Position of Probes Affects the Cross-Correlation of Gene Expression Profiles
- Visualization of Human Dmc1 Presynaptic Filaments
- Construction of a Full-Length cDNA Library from Castor Endosperm for High-Throughput Functional Screening
- Production of Proteins for NMR Studies Using the Wheat Germ Cell-Free System
- The Wheat Germ Cell-Free Expression System: Methods for High-Throughput Materialization of Genetic Information