Dovetail Genomics在AACR 2025之前推出超灵敏体细胞变异检测和AI驱动分析-动脉网

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

CISION 等信源发布 2025-04-23 20:00

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SCOTTS VALLEY, Calif.

加州斯科茨谷

，

April 23, 2025

2025年4月23日

/PRNewswire/ --

Dovetail Genomics

鸠尾基因组学

, 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.

，一家基因组解决方案的领先创新者，今天宣布了一种扩展的全面分析解决方案，用于体细胞变异检测，解决了使用下一代测序（NGS）平台识别结构变异（SVs）的难题。该解决方案提供了超灵敏的结构变异发现，能够以单碱基对分辨率检测低至1%的变异等位基因频率（VAF），并通过强大的云端信息学平台中的人工智能驱动工具实现对结构变异的生物学意义解读。

The NGS-based solution is fully compatible with common sample types including blood, tissue, cells and FFPE..

基于NGS的解决方案完全兼容常见样本类型，包括血液、组织、细胞和FFPE。

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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.

该平台解决方案包括一条新的分析流程，该流程结合了专有工具和最新的开源工具，以从单个Dovetail连接读取数据集中检测SV、SNV、InDel和CNV。除了标准的输出文件外，研究人员还会收到一份可直接解读的报告，该报告根据变异在癌症中的潜在相关性对其进行优先排序。

Further exploration of the data is supported with interactive visualization tools for deeper insights..

通过交互式可视化工具进一步探索数据，以获得更深入的见解。

'This breakthrough will empower cancer researchers working with FFPE, a notoriously challenging sample type...'

‘这一突破将助力正在处理FFPE（一种众所周知具有挑战性的样本类型）的癌症研究人员……’

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发布这个

'This breakthrough will empower cancer researchers working with FFPE, a notoriously challenging sample type, to uncover previously undetectable genetic variations with unprecedented precision.' said

“这一突破将使致力于研究FFPE（一种众所周知的具有挑战性的样本类型）的癌症研究人员能够以前所未有的精确度揭示之前无法检测到的遗传变异。”

Matt Easterday

马特·伊斯特戴

, CEO of Dovetail Genomics. 'Our solution now has the ability to call somatic variants with extremely high accuracy and recall including large structural rearrangements.'

，Dovetail Genomics首席执行官。“我们的解决方案现在能够以极高的准确性和召回率识别体细胞变异，包括大规模的结构重排。”

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.

为了进一步增强生物学洞察力，Dovetail 在流程中整合了一个由人工智能驱动的工具，该工具将结构变异（SV）与其基因水平的影响联系起来，帮助研究人员快速识别潜在的癌症驱动因素和感兴趣的通路。

'We're committed to providing a sample-to-insight solution that enables researchers to achieve high-quality results with minimal computational training,' said

“我们致力于提供一个从样本到洞察的解决方案，使研究人员能够以最少的计算培训获得高质量的结果，”

Zack Sanborn

扎克·桑伯恩

, 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.'.

Dovetail Genomics计算生物学和生物信息学高级总监表示：“作为这一承诺的一部分，我们整合了人工智能驱动的工具，使结构变异（SV）呼叫能够快速与其生物学意义相关联，从而改变了癌症研究人员解释数据的方式。我们已将完整解决方案打包到一个云端部署的门户网站中，确保无论用户是否具备计算专业知识，都能轻松获取先进基因组学的强大功能。”

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..

FFPE兼容服务还包括一个针对高度片段化样本优化的独特RNA-seq工作流程，能够实现高质量的融合检测和基因表达谱分析。这为研究人员提供了更完整的癌症基因组图景，并对关键发现进行了正交验证。

Visit Dovetail at AACR and ESHG

访问 Dovetail 参加 AACR 和 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.

Dovetail Genomics 将在2025年AACR（展位号#4339）展示其最新能力。与会者可以探索完整解决方案，并与Dovetail的科学家交流这些创新如何改变癌症研究中的结构变异分析。

AACR Poster Presentations (

AACR海报展示 (

April 30, 2025

2025年4月30日

9:00 AM

上午9:00

–

12:00 PM

中午12点

| Section 10):

| 第10节）：

#6625/6 –

Ericca Stamper

埃里卡·斯坦珀

：

LinkPrep™: A comprehensive assay for cancer genome characterization – enabling structural variant detection and discovery of enhancer hijacking

LinkPrep™：用于癌症基因组特征分析的全面检测方法——实现结构变异检测与增强子劫持发现

#6626/7 –

Cory C. Padilla

科里·C·帕迪利亚

：

Comprehensive, high-sensitivity, high-resolution somatic variant detection in solid tumors with LinkPrep – an NGS assay

使用LinkPrep进行全面、高灵敏度、高分辨率的实体瘤体细胞变异检测——一种NGS检测方法

#6631/12 –

Alexander Fortuna

亚历山大·福图纳

：

High-resolution characterization of FFPE-derived linked-read libraries for cancer genomics

高分辨率表征用于癌症基因组学的FFPE衍生连接读取文库

For researchers based in

对于研究人员而言，基于

Europe

欧洲

, the same capabilities and demonstrations will be available at ESHG in

，同样的能力和演示将在ESHG提供

Milan

米兰

(Booth #264).

（展位号264）。

Upcoming Webinar

即将举行的网络研讨会

Dovetail will also host an upcoming webinar with Dr.

Dovetail还将与博士共同举办即将举行的网络研讨会。

Brian Walker

布赖恩·沃克

, titled

，标题为

'Highly Sensitive Structural Variant Discovery in Multiple Myeloma Using Short Read Sequencing.'

'使用短读长测序在多发性骨髓瘤中发现高度敏感的结构变异。'

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 .

该环节探讨了短读和长读平台、光学基因组图谱以及Dovetail的LinkPrep技术在复杂结构变异（SV）检测中的应用。Walker博士对13个患者来源的异种移植样本的分析揭示了关键的SV驱动机制，如模板插入、染色体碎裂和基因失调。如有兴趣，请联系。

info@dovetail-genomics.com

。

About Dovetail Genomics

关于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.

Dovetail Genomics是一家提供长读长技术的公司，以前所未有的水平解锁基因组访问。通过Dovetail Genomics的专有技术，我们利用标准的下一代测序（NGS）方法，提供表观遗传学、遗传变异和基因组组装的访问，从短读长测序数据中生成长距离信息，捕获细胞中真实存在的、未被发现的基因组特征。

Researchers are using Dovetail Genomics' unique methods to solve complex problems including chromatin topology analysis, small and large genetic variation detection, .

研究人员正在使用Dovetail Genomics的独特方法来解决复杂的问题，包括染色质拓扑分析、小规模和大规模遗传变异检测等。

de novo

从头开始

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 .

染色体组装、单倍型定相在群体基因组学、人类疾病和药物发现领域。通过我们的服务和检测试剂盒产品，Dovetail Genomics已准备好与您合作，将您的基因组研究提升到一个新的水平。如需更多关于Dovetail及其技术和服务的信息，请访问。

www.dovetailgenomics.com

. Follow Dovetail on Bluesky (@dtgenomics.bsky.social) or X/Twitter (@DTGenomics).

请在Bluesky (@dtgenomics.bsky.social) 或 X/Twitter (@DTGenomics) 上关注Dovetail。

Media Contact

媒体联系人

Vikki Herrera

维基·赫雷拉

Oak Street Communications for Dovetail Genomics

橡树街通讯为燕尾榫基因组学

pr@cantatabio.com

SOURCE Dovetail Genomics