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  Mapping translocation breakpoints by next-generation sequencing

Chen, W., Kalscheuer, V., Tzschach, A., Menzel, C., Ullmann, R., Schulz, M. H., et al. (2008). Mapping translocation breakpoints by next-generation sequencing. Genome Research, 18(7), 1143-1149. doi:10.1101/gr.076166.108.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8038-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8039-D
Genre: Journal Article
Alternative Title : Genome Res

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 Creators:
Chen, Wei1, Author              
Kalscheuer, Vera2, Author              
Tzschach, Andreas1, Author              
Menzel, Corinna3, Author
Ullmann, Reinhard4, Author              
Schulz, Marcel Holger3, Author
Erdogan, Fikret1, Author              
Na, Li3, Author
Kijas, Zofia3, Author
Arkesteijn, Ger, Author
Pajares, Isidora Lopez, Author
Goetz-Sothmann, Margret, Author
Heinrich, Uwe, Author
Rost, Imma, Author
Dufke, Andreas, Author
Grasshoff, Ute, Author
Glaeser, Birgitta, Author
Vingron, Martin5, Author              
Ropers, H. Hilger1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Max Planck Society, ou_persistent13              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
5Gene regulation (Martin Vingron), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479639              

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 Abstract: Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterization of breakpoints in disease-associated BCRs has been instrumental in the molecular elucidation of a wide variety of genetic disorders. However, mapping chromosome breakpoints using traditional methods, such as in situ hybridization with fluorescent dye-labeled bacterial artificial chromosome clones (BAC-FISH), is rather laborious and time-consuming. In addition, the resolution of BAC-FISH is often insufficient to unequivocally identify the disrupted gene. To overcome these limitations, we have performed shotgun sequencing of flow-sorted derivative chromosomes using “next-generation” (Illumina/Solexa) multiplex sequencing-by-synthesis technology. As shown here for three different disease-associated BCRs, the coverage attained by this platform is sufficient to bridge the breakpoints by PCR amplification, and this procedure allows the determination of their exact nucleotide positions within a few weeks. Its implementation will greatly facilitate large-scale breakpoint mapping and gene finding in patients with disease-associated balanced translocations.

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Language(s): eng - English
 Dates: 2008-03-07
 Publication Status: Published in print
 Pages: -
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Title: Genome Research
  Alternative Title : Genome Res
Source Genre: Journal
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Pages: - Volume / Issue: 18 (7) Sequence Number: - Start / End Page: 1143 - 1149 Identifier: ISSN: 1088-9051