Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

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2010
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Schracke, Nadine
Wu, Haiguo
Cheng, Yang
Bau, Stephan
Stähler, Cord F.
Stähler, Peer F.
Beier, Markus
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Genomics ; 95 (2010), 4. - S. 241-246. - ISSN 0888-7543. - eISSN 1089-8646
Zusammenfassung
Sequence capture methods for targeted next generation sequencing promise to massively reduce cost of genomics projects compared to untargeted sequencing. However, evaluated capture methods specifically dedicated to biologically relevant genomic regions are rare. Whole exome capture has been shown to be a powerful tool to discover the genetic origin of disease and provides a reduction in target size and thus calculative sequencing capacity of > 90-fold compared to untargeted whole genome sequencing. For further cost reduction, a valuable complementing approach is the analysis of smaller, relevant gene subsets but involving large cohorts of samples. However, effective adjustment of target sizes and sample numbers is hampered by the limited scalability of enrichment systems. We report a highly scalable and automated method to capture a 480 Kb exome subset of 115 cancer-related genes using microfluidic DNA arrays. The arrays are adaptable from 125 Kb to 1 Mb target size and/or one to eight samples without barcoding strategies, representing a further 26 270-fold reduction of calculative sequencing capacity compared to whole exome sequencing. Illumina GAII analysis of a HapMap genome enriched for this exome subset revealed a completeness of > 96%. Uniformity was such that > 68% of exons had at least half the median depth of coverage. An analysis of reference SNPs revealed a sensitivity of up to 93% and a specificity of 98.2% or higher.
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Fachgebiet (DDC)
540 Chemie
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Exome Sequencing,Genomics,Next-Generation Sequencing,Sequence capture,Microarrays,Microfluidics
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ISO 690SUMMERER, Daniel, Nadine SCHRACKE, Haiguo WU, Yang CHENG, Stephan BAU, Cord F. STÄHLER, Peer F. STÄHLER, Markus BEIER, 2010. Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform. In: Genomics. 95(4), pp. 241-246. ISSN 0888-7543. eISSN 1089-8646
BibTex
@article{Summerer2010Targe-9819,
  year={2010},
  title={Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform},
  number={4},
  volume={95},
  issn={0888-7543},
  journal={Genomics},
  pages={241--246},
  author={Summerer, Daniel and Schracke, Nadine and Wu, Haiguo and Cheng, Yang and Bau, Stephan and Stähler, Cord F. and Stähler, Peer F. and Beier, Markus}
}
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