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Targeted enrichment of genomic DNA regions for next-generation sequencing
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2011 (English)In: Briefings in functional genomics, ISSN 2041-2649, Vol. 10, no 6, 374-386 p.Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 10, no 6, 374-386 p.
Keyword [en]
targeted enrichment, next-generation sequencing, genome partitioning, exome, genetic variation
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-167667DOI: 10.1093/bfgp/elr033ISI: 000298387100007OAI: oai:DiVA.org:uu-167667DiVA: diva2:488005
Available from: 2012-02-01 Created: 2012-01-31 Last updated: 2012-02-01Bibliographically approved

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