Targeted enrichment of genomic DNA regions for next-generation sequencing.

Authors:
Florian Mertes, Abdou Elsharawy, Sascha Sauer, Joop M L M van Helvoort, P J van der Zaag, Andre Franke, Mats Nilsson, Hans Lehrach, Anthony J Brookes
Year of publication:
2011
Volume:
10
Issue:
6
Issn:
2041-2649
Journal title abbreviated:
BRIEF FUNCT GENOMICS
Journal title long:
Briefings in functional genomics
Impact factor:
3.124
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.