1. Targeted enrichment of genomic DNA regions for next-generation sequencing
- Author
-
Sascha Sauer, Anthony J. Brookes, Hans Lehrach, Andre Franke, Mats Nilsson, P.J. van der Zaag, Joop M.L.M. van Helvoort, Abdou ElSharawy, and Florian Mertes
- Subjects
Genomics ,Computational biology ,Biology ,Biochemistry ,Genome ,DNA sequencing ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,Animals ,Humans ,Base sequence ,Molecular Biology ,Exome ,genome partitioning ,030304 developmental biology ,0303 health sciences ,Base Sequence ,Sequence Analysis, DNA ,General Medicine ,Molecular diagnostics ,Enrichment methods ,genomic DNA ,targeted enrichment ,030220 oncology & carcinogenesis ,Papers ,genetic variation ,next-generation sequencing ,Technology Platforms ,exome - 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.
- Published
- 2011