No single technology can fully capture the breadth of genetic variation. Structural variation, in particular, is incredibly diverse and complex, encompassing a vast range of sizes and configurations. This challenges researchers, as they must rely on multiple technologies to detect and validate these variants while also using WGS for smaller SNVs and INDELs. The Dovetail® VarilinkTM Assay overcomes these limitations.
The Varilink data structure leverages in situ DNA-DNA interactions within a cell's nucleus to generate ultra-high supporting evidence. By accumulating breakpoint evidence through these interactions, Varilink achieves a non-linear increase in breakpoint signal with sequencing coverage. This leads to enhanced sensitivity, reduced false positives, and lower sequencing needs. In contrast, WGS approaches rely on reads spanning breakpoints, resulting in higher sequencing demands and a higher false positive rate.