Target enrichment through DNA hybridization-capture analysis reduces the costs and complexity of analysis by focusing the interrogation of a DNA library to the specific genomic regions of interest. The development of targeted whole exome capture panels has allowed for sequencing output and analysis to be directed at just 1% of the genome associated with protein coding regions. This reduced burden on sequencing throughput, in combination with sample indexing strategies, has allowed for multiple samples to be pooled on a single sequencing run. With the increase in capacity afforded by the newest generation of sequencing instruments, an increased number of samples can be combined on a single sequencing run, further reducing both costs and processing time. In 2019, to further streamline upstream sample processing, Twist Bioscience introduced modifications to our whole exome sequencing workflows that allowed for single-day multiplexed capture of up to 16 Core Exomes.

Since these innovations, Twist has developed an improved capture system that further expands the multiplexing capability of our target enrichment system. Using a newly optimized capture panel, Exome 2.0, we demonstrate this new capability through the simultaneous capture of 96 genomic libraries. Here we present data generated on an Illumina NovaSeq 6000 sequencing platform which shows equivalent performance using the MaxPlex capture system when compared to our standard mid-plexed protocols. These results highlight the capability of the MaxPlex capture approach and further demonstrate the potential of a high-throughput whole exome sequencing solution.