Sensitive Analysis of Clinically Actionable Genomic Regions with an Integrated Target Enrichment and Sequencing Workflow

Over the last 15 years, hybridization-based approaches to enrich genomic regions of interest have enabled efficient and sensitive sequencing methods. From sequencing the exome for disease variant discovery to targeting small numbers of genes at high depth in somatic applications, many options exist for translational and clinical analysis. As sequencing has become less expensive, unbiased approaches like genome-wide sequencing have become common in precision health applications. Although genomes have high value and high impact, there are many applications that benefit from targeted enrichment approaches to increase sensitivity in challenging regions of the genome or to improve sensitivity to low-frequency variants, particularly in somatic applications. A significant challenge to targeted workflows is the additional technical burden and time of the hybridization workflow. These steps add several hours to a day to experimental workflows and can be challenging to automate. To address these challenges and create a highly efficient and dynamic workflow, we have created an integrated, on-flowcell target enrichment capability integrated into the standard sequencing workflow on the Element AVITI platform. This workflow leverages unique surface chemistry and does not add time or steps to the sequencing process. It also does not require any library preparation modifications. A single library preparation workflow can be used with a wide variety of target enrichment experiments. We demonstrate efficient target enrichment over regions of interest in oncology and exome.

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