#United States #Cancer Research #Dovetail Genomics #Scotts Valley #somatic variants

Dovetail Genomics Introduces Enhanced Somatic Variant Detection Tools

Dovetail Genomics, a pioneering name in genomic innovations, has made significant strides in the realm of somatic variant detection. On April 23, 2025, the company revealed a major update to its analytical solutions tailored for the identification of structural variants (SVs) through Next-Generation Sequencing (NGS) platforms. This cutting-edge offering is designed to address the longstanding challenges faced by researchers in detecting these variants, particularly in challenging sample types such as Formalin-Fixed Paraffin-Embedded (FFPE) tissues.

What's New in Their Offering?

The newly released analysis solution boasts remarkable sensitivity, promising the discovery of structural variants at a base-pair resolution down to a mere 1% variant allele frequency (VAF). By utilizing advanced AI-driven analytical tools within a robust cloud-based informatics platform, the product not only enables precise detection of SVs but also facilitates meaningful biological interpretations of the findings.

The innovative platform integrates both proprietary and the latest open-source tools to perform comprehensive analyses. It allows researchers to detect a myriad of genetic variations—specifically SVs, single nucleotide variants (SNVs), insertions and deletions (InDels), and copy number variations (CNVs)—all from a single linked-read dataset generated by Dovetail's technology. Researchers can expect not only standard output files but also an interpretation-ready report, prioritizing identified variants based on their clinical significance, particularly in cancer contexts. The incorporated interactive visualization tools further enhance data exploration, yielding deeper insights into the research being conducted.

Impact on Cancer Research

Matt Easterday, CEO of Dovetail Genomics, highlighted the profound impact this breakthrough could have on cancer research, particularly pointing out the utility of the solution for FFPE samples that have historically posed challenges for genomic analysis. He stated, “This technology empowers researchers to uncover previously undetectable genetic variations with unmatched accuracy.” The enhanced capability to identify somatic variants accurately, including large structural rearrangements, opens new avenues for understanding complex genetic alterations that drive cancer.

In addition to detecting structural variants, the solution features a unique RNA-seq workflow that has been specifically refined for fragmented samples. This enhancement allows for precise fusion detection and comprehensive gene expression profiling, thereby presenting researchers with a holistic view of cancer genomes and validating key findings through independent corroboration.

Upcoming Events and Demonstrations

Dovetail Genomics plans to showcase its revolutionary solutions at AACR 2025, located at Booth #4339. Attendees will have the opportunity to engage directly with Dovetail scientists to learn about how these innovations are set to transform structural variant analysis in cancer research. Additionally, the company will be presenting research posters on several groundbreaking studies, including:

• - LinkPrep™ Assay for Cancer Genome Characterization: A comprehensive approach enabling structural variant detection and enhancer hijacking discovery.
• - Somatic Variant Detection in Solid Tumors: Presenting high sensitivity and resolution approaches using LinkPrep.
• - Characterization of FFPE Libraries for Cancer Genomics: Strategies for accurate genomic insights from complex tissue samples.

For European researchers, these capabilities and demonstrations will also be highlighted at the ESHG conference in Milan (Booth #264).

Webinar on Sensitive Variant Detection

In an effort to further share this knowledge, Dovetail Genomics will conduct a webinar led by Dr. Brian Walker focusing on the detection of structural variants in Multiple Myeloma utilizing Short Read Sequencing. This session is poised to offer innovative insights into complex SV detection and will feature studies of patient-derived xenografts, elaborating on critical SV-driven mechanisms such as templated insertions and chromothripsis.

Conclusion

Dovetail Genomics continues to push the boundaries of genomic research through advancements that not only enhance the capabilities of cancer researchers but also democratize access to sophisticated genomic analyses. Their commitment to providing a sample-to-insight solution reflects their dedication to transforming the landscape of genomic research across various fields including population genomics and drug discovery. For further information, visit their website or follow them on social media for updates on their groundbreaking technologies.