Commercialization of a rapid, automated Hi-C platform for sensitive genomic profiling of multiple cancer sample types

ABSTRACT Cancer is projected to affect 20M people worldwide in 2023, with new cases increasing almost 30% in the next two decades. Cancer is a complex disease caused by a vast range of genetic and epigenetic defects. Existing technologies often fall short in comprehensively identifying the various genetic aberrations underlying different

cancer types. A significant number of cancers remain without detected actionable or causative variants, revealing a critical gap in our understanding, and delaying or preventing the use of targeted treatments. To address this gap, we have developed an innovative Hi-C workflow that we call VariLink™. VariLink overcomes

many of the limitations of current genomic technologies and substantially enhances the detection of cancer- driving structural variants (SVs) in the genome. By leveraging the 3D structure of the genome to incorporate long-range linkage information into the sequencing library, VariLink enables highly sensitive detection of large

SVs, while maintaining shotgun-like detection of smaller variants such as small nucleotide variants (SNVs) and insertions/deletions (indels). VariLink also overcomes the drawbacks of other commercially available Hi-C technologies with its 1) rapid workflow (