PMID- 22228019
OWN - NLM
STAT- MEDLINE
DCOM- 20120424
LR  - 20120109
IS  - 1940-6029 (Electronic)
IS  - 1064-3745 (Linking)
VI  - 838
DP  - 2012
TI  - Targeted screening and validation of copy number variations.
PG  - 311-28
LID - 10.1007/978-1-61779-507-7_15 [doi]
AB  - 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.
FAU - Ceulemans, Shana
AU  - Ceulemans S
AD  - Applied Molecular Genomics Unit, VIB, Department of Molecular Genetics, Flanders, 
      Belgium.
FAU - van der Ven, Karlijn
AU  - van der Ven K
FAU - Del-Favero, Jurgen
AU  - Del-Favero J
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Methods Mol Biol
JT  - Methods in molecular biology (Clifton, N.J.)
JID - 9214969
SB  - IM
MH  - *DNA Copy Number Variations
MH  - Gene Dosage
MH  - *Genome, Human
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Multiplex Polymerase Chain Reaction/methods
MH  - Nucleic Acid Hybridization/methods
MH  - Polymorphism, Single Nucleotide
MH  - Real-Time Polymerase Chain Reaction/methods
MH  - Validation Studies as Topic
EDAT- 2012/01/10 06:00
MHDA- 2012/04/25 06:00
CRDT- 2012/01/10 06:00
PHST- 2012/01/10 06:00 [entrez]
PHST- 2012/01/10 06:00 [pubmed]
PHST- 2012/04/25 06:00 [medline]
AID - 10.1007/978-1-61779-507-7_15 [doi]
PST - ppublish
SO  - Methods Mol Biol. 2012;838:311-28. doi: 10.1007/978-1-61779-507-7_15.