Target Specific Enrichments Combined with Next-Generation Sequencing Revolutionizes the Analysis of Human Exomes

Exomes consist of all genomic regions coding for proteins and the untranslated regions (UTRs) flanking them. Next Generation Sequencing (NGS) has changed possibilities for analyzing exomes. A method which allows the discovery of relevant genetic variants at a lower cost is exome enrichment. This white paper shows the development of an efficient workflow for the evaluation of exome enrichment methods that are more effective than whole genome sequencing for researching some scientific questions. It is expected that exome sequencing will be utilized in clinical and genetic diagnostics and personalized disease risk profiling in the near future.