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  High-throughput sequencing of microdissected chromosomal regions.

Weise, A., Timmermann, B., Grabherr, M., Werber, M., Heyn, P., Kosyakova, N., et al. (2009). High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1-6. doi:10.1038/ejhg.2009.196.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CD2-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CD4-3
Genre: Journal Article
Alternative Title : Euro. J. Hum. Genet.

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 Creators:
Weise, Anja, Author
Timmermann, Bernd1, Author              
Grabherr, Manfred, Author
Werber, Martin2, Author              
Heyn, Patricia, Author
Kosyakova, Nadezdaa, Author
Liehr, Thomas, Author
Neitzel, Heidemarie, Author
Konrat, Kateryna, Author
Bommer, Christiane, Author
Dietrich, Carola, Author
Rajab, Anna, Author
Reinhardt, Richard3, Author              
Mundlos, Stefan4, Author              
Lindner, Tom H., Author
Hoffmann, Katrin4, Author              
Affiliations:
1Sequencing, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433559              
2Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
3High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
4Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: genomic selection; enrichment; microdissection; next-generation sequencing
 Abstract: The linkage of disease gene mapping with DNA sequencing is an essential strategy for defining the genetic basis of a disease. New massively parallel sequencing procedures will greatly facilitate this process, although enrichment for the target region before sequencing remains necessary. For this step, various DNA capture approaches have been described that rely on sequence-defined probe sets. To avoid making assumptions on the sequences present in the targeted region, we accessed specific cytogenetic regions in preparation for next-generation sequencing. We directly microdissected the target region in metaphase chromosomes, amplified it by degenerate oligonucleotide-primed PCR, and obtained sufficient material of high quality for high-throughput sequencing. Sequence reads could be obtained from as few as six chromosomal fragments. The power of cytogenetic enrichment followed by next-generation sequencing is that it does not depend on earlier knowledge of sequences in the region being studied. Accordingly, this method is uniquely suited for situations in which the sequence of a reference region of the genome is not available, including population-specific or tumor rearrangements, as well as previously unsequenced genomic regions such as centromeres.

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Language(s): eng - English
 Dates: 2009-11-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 460810
DOI: 10.1038/ejhg.2009.196
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Title: European Journal of Human Genetics
  Alternative Title : Euro. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: - Sequence Number: ejhg.2009.196 Start / End Page: 1 - 6 Identifier: ISSN: 1018-4813