Dovetail Genomics Showcases New VariLink™ Assay Findings at AGBT Conference

 Dovetail Genomics, announces new findings on its VariLink™ assay that will be presented in a poster at the AGBT Precision Health Conference in Denver, CO. The VariLink assay, built on Dovetail’s novel LinkPrep™ technology, enables ultra-high sensitivity, de novo detection of large structural variants alongside SNVs, indels and CNVs on a short-read sequencer. The presented study features the VariLink assay’s sensitivity and precision in an ovarian tumor sample, highlighting its utility in clinically relevant sample types.

“Detection of large structural variants has been a challenge using short-read platforms. We have solved this problem using VariLink, our single-day library preparation workflow. By generating high-quality, unbiased Hi-C libraries, we capture the full spectrum of genetic variants enabling oncology researchers to more fully understand the drivers of human cancer,” said Mathew Easterday, Ph.D., J.D., CEO of Dovetail Genomics. “We are now excited to be putting the technology in the hands of research partners as part of a technology early access program”.

Using a clinical ovarian serous adenocarcinoma sample, the authors compared the performance of the VariLink assay for detecting a continuum of large and small structural variants compared to whole genome shotgun sequencing (WGS) and RNA-seq. Compared to WGS, the VariLink assay demonstrated enhanced sensitivity and precision for SV detection while maintaining a high concordance for capturing SNVs and indels.

The VariLink data demonstrated increased sensitivity for breakpoint detection while reducing the number of false positives that plague short-read WGS data. Illustrating this capability, three translocations linked to known oncogenes known to drive oncogenesis were discovered with high confidence and confirmed by PCR and Sanger sequencing. Minimal to no evidence for each was observable in WGS and RNA-seq datasets.

“In the past, we have seen interest in using Hi-C for detecting large structural variants, however, the assay complexity, multiday workflow, and sequence coverage gaps associated with traditional Hi-C have limited its broad adoption. Our LinkPrep technology on which the VariLink assay is built addresses these shortcomings,” stated Ericca Stamper, Ph.D., Genomic Science Liaison at Dovetail Genomics and lead author on the poster. “I look forward to sharing more on this with researchers at the AGBT Precision Health conference.”

The detailed findings will be presented in the poster titled “VariLink: a novel assay for comprehensive variant detection and genome characterization” (Poster Number: 506) on Thursday, September 5th, from 4:40pm-6:40pm.