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Targeted enrichment of genomic DNA regions for next-generation sequencing

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Mertes,  F.
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Sauer,  S.
Nutrigenomics and Gene Regulation (Sascha Sauer), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Lehrach,  H.
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Mertes, F., Elsharawy, A., Sauer, S., van Helvoort, J. M., van der Zaag, P. J., Franke, A., et al. (2011). Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics, 10(6), 374-86. Retrieved from http://bfg.oxfordjournals.org/content/10/6/374.full.pdf.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7863-1
Abstract
In this review, we discuss the latest targeted enrichment methods and aspects of their utilization along with second-generation sequencing for complex genome analysis. In doing so, we provide an overview of issues involved in detecting genetic variation, for which targeted enrichment has become a powerful tool. We explain how targeted enrichment for next-generation sequencing has made great progress in terms of methodology, ease of use and applicability, but emphasize the remaining challenges such as the lack of even coverage across targeted regions. Costs are also considered versus the alternative of whole-genome sequencing which is becoming ever more affordable. We conclude that targeted enrichment is likely to be the most economical option for many years to come in a range of settings.