Target enrichment offers distinct advantages over whole genome sequencing. Specifically, the complexity and costs of sample analysis are reduced through focused sequencing of select regions of interest.  Leveraging target enrichment, whole exome sequencing has become a powerful and well established tool used to interrogate the coding regions of the genome. There are several target enrichment systems and exome capture panels available on the market, including options from Twist Bioscience. Here we present data from our most up-to-date whole exome capture solution. Featuring an improved hybridization system and optimized capture panel design, Exome 2.0 enables best-in-class performance with options for same day or overnight target enrichment workflows.

Our newly designed panel has been expanded to include an exhaustive list of regions of clinical significance. This additional content includes ClinVar coverage of over 99% representing an appreciable improvement over previous exomes. The probe design has also been rebalanced and specifically tailored to produce increased uniformity of coverage on the Illumina Novaseq sequencing platform. In addition to these improvements, the updated overnight hybridization system reduces undesirable off-bait by up to 50% compared to previous offerings. This increased uniformity of coverage combined with an improved on-target rate results in lower overall sequencing needs and costs per sample.

Further improvements include the addition of a bead-based alternative to the speedvac drydown step for both the overnight and single-day hybridization workflows. The configuration of the hybrid-capture system also allows for customization of targeted regions and the ability to multiplex up to 16 samples in a single capture reaction. 

We demonstrate that Exome 2.0 has improved performance in several key areas including uniformity of coverage and percent on bait. These results combined with our flexible workflow makes our system an ideal option for whole exome sequencing.