Dovetail Genomics Unveils Ultra-Sensitive Somatic Variant Detection and AI-Driven Analysis Ahead of AACR 2025

SCOTTS VALLEY, Calif., April 23, 2025 /PRNewswire/ -- Dovetail Genomics, a leading innovator in genomic solutions, today announced an expanded comprehensive analysis solution for somatic variation detection, addressing the challenge of identifying structural variants (SVs) using NGS platforms. The solution offers ultra-sensitive discovery of SVs at base-pair resolution down to 1% variant allele frequency (VAF), and biologically meaningful interpretation of SVs through AI-driven tools in a powerful, cloud-based informatics platform. The NGS-based solution is fully compatible with common sample types including blood, tissue, cells and FFPE.

The platform solution includes a new analysis pipeline that combines proprietary and the latest open-source tools to detect SVs, SNVs, InDels, and CNVs from a single Dovetail linked-read data set. In addition to standard output files, researchers receive an interpretation-ready report that prioritizes variants based on their potential relevance in cancer. Further exploration of the data is supported with interactive visualization tools for deeper insights.

"This breakthrough will empower cancer researchers working with FFPE, a notoriously challenging sample type, to uncover previously undetectable genetic variations with unprecedented precision." said Matt Easterday, CEO of Dovetail Genomics. "Our solution now has the ability to call somatic variants with extremely high accuracy and recall including large structural rearrangements."

To further enhance biological insight, Dovetail has integrated an AI-driven tool into the pipeline that connects SV calls with their gene-level implications, helping researchers quickly identify potential cancer drivers and pathways of interest.

"We're committed to providing a sample-to-insight solution that enables researchers to achieve high-quality results with minimal computational training," said Zack Sanborn, Senior Director of Computational Biology and Bioinformatics at Dovetail Genomics. "As part of this commitment, our integration of AI-driven tools is enabling SV calls to be rapidly connected with their biological implications, thereby transforming how cancer researchers interpret their data. We've packaged the full solution into a cloud-deployed portal, ensuring that the power of advanced genomics is readily accessible to everyone, regardless of their computational expertise."

The FFPE-compatible service also includes a unique RNA-seq workflow optimized for highly fragmented samples, enabling high-quality fusion detection and gene expression profiling. This provides researchers with both a more complete picture of cancer genomes and orthogonal confirmation of key findings.

Visit Dovetail at AACR and ESHG

Dovetail Genomics will showcase its latest capabilities at AACR 2025 (Booth #4339). Attendees can explore the full solution and speak with Dovetail scientists about how these innovations are transforming structural variant analysis in cancer research.

AACR Poster Presentations (April 30, 2025 | 9:00 AM – 12:00 PM | Section 10):

• #6625/6 – Ericca Stamper: LinkPrep™: A comprehensive assay for cancer genome characterization – enabling structural variant detection and discovery of enhancer hijacking
• #6626/7 – Cory C. Padilla: Comprehensive, high-sensitivity, high-resolution somatic variant detection in solid tumors with LinkPrep – an NGS assay
• #6631/12 – Alexander Fortuna: High-resolution characterization of FFPE-derived linked-read libraries for cancer genomics

For researchers based in Europe, the same capabilities and demonstrations will be available at ESHG in Milan (Booth #264).

Upcoming Webinar

Dovetail will also host an upcoming webinar with Dr. Brian Walker, titled "Highly Sensitive Structural Variant Discovery in Multiple Myeloma Using Short Read Sequencing." The session explores complex SV detection across short-read and long-read platforms, optical genome mapping, and Dovetail's LinkPrep technology. Dr. Walker's analysis of 13 patient-derived xenograft samples reveals key SV-driven mechanisms like templated insertions, chromothripsis, and gene dysregulation.  If interested, please reach out to [email protected].

About Dovetail Genomics

Dovetail Genomics is a linked-read technology company that unlocks access to the genome at an unparalleled level. Through Dovetail Genomics' proprietary technologies, we provide access to epigenetics, genetic variation, and genome assembly using standard next-generation sequencing (NGS) approaches to generate long-range information from short-read sequencing data, capturing unseen genomic features as they exist in the cell. Researchers are using Dovetail Genomics' unique methods to solve complex problems including chromatin topology analysis, small and large genetic variation detection, de novo chromosome assembly, and haplotype phasing in the fields of population genomics, human disease, and drug discovery. Through our services and assay kit offerings, Dovetail Genomics is ready to partner with you to elevate your genome research to a new level. For more information on Dovetail, its technology, and service offerings, visit www.dovetailgenomics.com. Follow Dovetail on Bluesky (@dtgenomics.bsky.social) or X/Twitter (@DTGenomics).

Media Contact
Vikki Herrera
Oak Street Communications for Dovetail Genomics
[email protected]

SOURCE Dovetail Genomics