A Groundbreaking Assay Using Short-Read Sequencers to Comprehensively Detect Large Structural Variants
SCOTTS VALLEY, Calif., Sept. 4, 2024 /PRNewswire/ -- Dovetail Genomics, a leading innovator in genomic solutions, today 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.
Dovetail Genomics is seeking additional projects that highlight the unique sensitivity and precision offered by the VariLink assay for inclusion in the early access program. Researchers interested in being considered for this program are encouraged to contact Dovetail Genomics at dovetailgenomics.com.
About Dovetail Genomics
Dovetail Genomics, a subsidiary of Cantata Bio and an Edenroc Sciences company, is a leading provider of genomics solutions focused on understanding the complex organization of the genome. Through Dovetail Genomics’ proprietary proximity ligation technologies, the 3D architecture of the genome is captured alongside primary sequence information using standard next-generation sequencing (NGS) approaches. Researchers are using Dovetail Genomics’ unique methods to solve complex problems including chromatin topology analysis, small and large structural variant detection, de novo chromosome assembly, haplotype phasing, and microbiome analysis in the fields of epigenetics, developmental biology, cancer research, evolutionary biology and more. For more information on Dovetail, its technology, and service offerings, visit www.dovetailgenomics.com. Follow Dovetail on X/Twitter: @DTGenomics.Media Contact
Vikki Herrera
Oak Street Communications for Dovetail Genomics
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