Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing

Abstract

Next-generation sequencing has still not reached its full potential due to the technical inability of effectively targeting desired genomic regions of interest. Once available, methods adressing this bottleneck will dramatically reduce cost and enable the efficient analysis of complex samples. Recently, a number of possible approaches for genomic-scale sequence enrichment have been reported using different strategies. All methods basically rely on sequence-specific nucleic acid hybridization, however, they differ in several aspects such as the use of solid phase versus solution phase hybridization, probe design and overall workflows with implications for automation. Overall, several key challenges of genome-wide sequence enrichment have become clear after these studies that remain to be overcome. We summarize the different technologies and highlight individual characteristics related to general potential and different suitabilities for specific applications.