Dovetail^® VariLink^™Assay

Improved Whole Genome Variant Discovery

The VariLink™ Assay Detects SVs with High Sensitivity Plus Captures More Classes of Genetic Variants than Other Technologies

Current technologies have significant gaps in detecting the range of genetic variation that drive cancers. Structural variation, in particular, is incredibly diverse and complex, and is a challenge to detect with conventional WGS methods. The Dovetail^® VariLink™ Assay allows for the highly sensitive and accurate detection of structural variation, while preserving the capabilities of short read sequencing in detection of SNVs, Indels and CNV.

Capture SVs With High Sensitivity Without Sacrificing SNVs and INDELs

The VariLink Assay Enables High Read Support through Breakpoint ‘Flanking’

The VariLink™ data structure leverages in situ DNA-DNA interactions to detect large SVs with short read sequencing. By accumulating SV evidence through these interactions, the VariLink assay achieves an exponential increase in signal with sequencing coverage. This leads to enhanced sensitivity, reduced false positives, and lowers the required sequencing depth. In contrast, WGS approaches rely on reads spanning breakpoints, resulting in higher sequencing demands and a higher false positive rate.

Capture SVs Missed By Other Technologies, Without All the False Positives

In a clinical ovarian sarcoma sample, the VariLink Assay accurately identified three distinct translocations without any false positives, supported by robust read counts (minimum read support >500). These SVs involve several oncogenes known to be linked to ovarian cancer. In contrast, WGS and RNA-seq methods fell short, detecting only two and one translocations, respectively, with minimal read support (less than 4 reads). Furthermore, these methods generated high numbers of false positives—36 for RNA-seq and a staggering 402 for WGS—requiring extensive manual review and validation.

Do More with Your Short Reads

VariLink data excels at detecting genetic variants. At its core the VariLink assay is an NGS solution that captures primary sequence information used to detect clinically relevant SNVs, INDELs, and CNVs. The unique chemistry behind the VariLink assay unlocks high sensitivity SV detection on your Illumina sequencer, even at low sequence depth.

Summarize Genetic Variation with Clear, Actionable Reporting

The VariLink™ Service delivers an individualized genetic report that summarizes variant calls. Along with sample information, the VariLink report provides a summary at a glance, including a Circos plot and count of variants by type. More in-depth results include a list of top-ranked SNV and INDELs that have been annotated with the variant effect predictor, a summary table of large structural variants, and CNV plot where gains and losses can be easily observed. The report will help guide you to genetic aberrations that are mostly likely to impactor drive the oncogenic phenotype.

Dovetail® VariLink™ Assay