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Zoom-in array comparative genomic hybridization (aCGH) to detect germline rearrangements in cancer susceptibility genes.

Staaf, Johan LU and Borg, Åke LU (2010) In Methods in Molecular Biology 653. p.221-235
Abstract
Disease predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements, including deletions or duplications that are challenging, to detect and characterize using standard PCR-based mutation screening methods. Such rearrangements range from single exons up to hundreds of kilobases of sequence in size. Array-based comparative genomic hybridization (aCGH) has evolved as a powerful technique to detect copy number alterations on a genome-wide scale. However, the conventional genome-wide approach of aCGH still provides only limited information about copy number status for individual exons. Custom-designed aCGH arrays focused on only a few target regions (zoom-in aCGH) may circumvent this drawback.... (More)
Disease predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements, including deletions or duplications that are challenging, to detect and characterize using standard PCR-based mutation screening methods. Such rearrangements range from single exons up to hundreds of kilobases of sequence in size. Array-based comparative genomic hybridization (aCGH) has evolved as a powerful technique to detect copy number alterations on a genome-wide scale. However, the conventional genome-wide approach of aCGH still provides only limited information about copy number status for individual exons. Custom-designed aCGH arrays focused on only a few target regions (zoom-in aCGH) may circumvent this drawback. Benefits of zoom-in aCGH include the possibility to target almost any region in the genome, and an unbiased coverage of exonic and intronic sequence facilitating convenient design of primers for sequence determination of the breakpoints. Furthermore, zoom-in aCGH can be streamlined for a particular application, for example, focusing on breast cancer susceptibility genes, with increased capacity using multiformat design. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Methods in Molecular Biology
volume
653
pages
221 - 235
publisher
Springer
external identifiers
  • pmid:20721746
  • scopus:79952020833
ISSN
1940-6029
DOI
10.1007/978-1-60761-759-4_13
project
CREATE Health
language
English
LU publication?
yes
id
2741a613-2711-4b06-862a-521eebd9913a (old id 1665196)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20721746?dopt=Abstract
date added to LUP
2010-09-03 11:18:39
date last changed
2018-05-29 09:42:18
@article{2741a613-2711-4b06-862a-521eebd9913a,
  abstract     = {Disease predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements, including deletions or duplications that are challenging, to detect and characterize using standard PCR-based mutation screening methods. Such rearrangements range from single exons up to hundreds of kilobases of sequence in size. Array-based comparative genomic hybridization (aCGH) has evolved as a powerful technique to detect copy number alterations on a genome-wide scale. However, the conventional genome-wide approach of aCGH still provides only limited information about copy number status for individual exons. Custom-designed aCGH arrays focused on only a few target regions (zoom-in aCGH) may circumvent this drawback. Benefits of zoom-in aCGH include the possibility to target almost any region in the genome, and an unbiased coverage of exonic and intronic sequence facilitating convenient design of primers for sequence determination of the breakpoints. Furthermore, zoom-in aCGH can be streamlined for a particular application, for example, focusing on breast cancer susceptibility genes, with increased capacity using multiformat design.},
  author       = {Staaf, Johan and Borg, Åke},
  issn         = {1940-6029},
  language     = {eng},
  pages        = {221--235},
  publisher    = {Springer},
  series       = {Methods in Molecular Biology},
  title        = {Zoom-in array comparative genomic hybridization (aCGH) to detect germline rearrangements in cancer susceptibility genes.},
  url          = {http://dx.doi.org/10.1007/978-1-60761-759-4_13},
  volume       = {653},
  year         = {2010},
}