NEW YORK –Dovetail Genomics, a unit of Cantata Bio, is gearing up for the launch of a structural variant detection kit and service based on the firm's LinkPrep chromatin conformation technology.

纽约——Cantata Bio旗下的Dovetail Genomics正准备推出基于该公司LinkPrep染色质构象技术的结构变异检测试剂盒和服务。

The new offering will feature a kit and data analysis service for detecting structural variants and will be launched at the American Society of Human Genetics annual meeting in November.

新产品将提供用于检测结构变异的试剂盒和数据分析服务，并将在11月的美国人类遗传学学会年会上推出。

The LinkPrep technology builds on the Hi-C method, in which chromatin is crosslinked with formaldehyde, digested, and religated such that only DNA fragments that are covalently linked form ligation products. These contain information on where the DNA resided in the genome's three-dimensional organization.

LinkPrep技术建立在Hi-C方法的基础上，在该方法中，染色质与甲醛交联，消化并重新连接，使得只有共价连接的DNA片段才能形成连接产物。这些包含有关DNA在基因组三维组织中的位置的信息。

Despite small differences in library preparation methods, such as sample processing and quality control, all LinkPrep applications consist largely of the same steps, differing mainly in how data analysis is done. .

尽管在样品处理和质量控制等文库制备方法上存在细微差异，但所有LinkPrep应用程序在很大程度上都包含相同的步骤，主要不同之处在于如何进行数据分析。

While broadly similar to Hi-C, LinkPrep is a single-day assay, compared to the standard two to three day needed for most Hi-C assays. This largely results from the use of Tn5 tagmentation, in which Tn5 transposase breaks DNA double strands and ligates sequencing adaptors in a rapid reaction that eliminates bias from traditional restriction enzymes used in most Hi-C workflows and combines two components of the assay into a single step..

虽然与Hi-C大致相似，但LinkPrep是一种单日测定法，而大多数Hi-C测定法需要两到三天的标准时间。这主要是由于使用了Tn5标记，其中Tn5转座酶在快速反应中破坏DNA双链并连接测序衔接子，从而消除了大多数Hi-C工作流程中使用的传统限制酶的偏见，并将测定的两个组成部分结合到一个步骤中。。

Lisa Munding, VP of research and development at Dovetail, said that replacing endonucleases such as MNase and DNase with transposase in the Hi-C workflow simplifies the assay by eliminating the need to manage and optimize digestion kinetics.

Dovetail研究与开发副总裁丽莎·蒙丁（LisaMunding）表示，在Hi-C工作流程中，用转座酶替代核酸内切酶（如MNase和DNase），无需管理和优化消化动力学，从而简化了测定。

She explained that the use of Tn5 provides whole-genome sequencing (WGS)-like coverage while maintaining haplotype-aware long-range interactions, a hallmark of Hi-C data. It also enables robust single nucleotide variant (SNV) detection.

她解释说，Tn5的使用提供了类似全基因组测序（WGS）的覆盖范围，同时保持了单倍型感知的远程相互作用，这是Hi-C数据的标志。它还可以实现强大的单核苷酸变异（SNV）检测。

'This allows phasing across low-complexity regions, through variants occurring hundreds of kilobases apart on the same haplotype,' she said. 'Tn5-based workflows, such as LinkPrep, can detect and phase variants from the same data.'

她说：“这允许通过在同一单倍型上相距数百千碱基的变异，在低复杂度区域进行分阶段。”基于Tn5的工作流（例如LinkPrep）可以从相同的数据中检测和定位变体。”

LinkPrep has potential applications in human leukocyte antigen (HLA) genotyping and in oncology, Munding said.

Munding说，LinkPrep在人类白细胞抗原（HLA）基因分型和肿瘤学方面有潜在的应用。

In fact, Dovetail is positioning its upcoming LinkPrep for SV detection product for cancer research, since SVs frequently drive oncogenesis. 'We're really focused on being able to leverage this tool as a way to help cancer researchers better detect structural variants at higher resolution and much more cheaply than what you can do with today's technology,' said Naissan Hussainzada, Dovetail’s VP of commercial operations, adding that the company sees future potential for LinkPrepin a clinical assay..

事实上，Dovetail正在为癌症研究定位即将推出的LinkPrep for SV检测产品，因为SV经常驱动肿瘤发生。”Dovetail的商业运营副总裁奈桑·侯赛因扎达（NaissanHussainzada）说，我们真正关注的是能够利用这个工具来帮助癌症研究人员以更高的分辨率更好地检测结构变异，而且比现在的技术要便宜得多。他补充说，该公司认为LinkPrepin在临床检测中具有未来的潜力。。

Likewise, Munding described the HLA region as a 'hyper-focused region of structural variation,' ideal for Hi-C and Hi-C adjacent methods such as LinkPrep.

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Transposase-based library prep featuring Tn5 has been around since at least 2010. NGS platform developer SeqWell recently launched a portfolio of transposase reagents, which include its Tagify i5 Unique Molecular Identifier (UMI) adapter-loaded Tn5 transposase.

至少自2010年以来，以Tn5为特征的基于转座酶的文库制备已经存在。NGS平台开发人员SeqWell最近推出了一系列转座酶试剂，其中包括其Tagify i5唯一分子标识符（UMI）适配器加载的Tn5转座酶。

Similarly, German researchers earlier this year published a high-throughput chromatin accessibility and gene expression assay called SHARE-seq that utilizes the Tn5 transposase to mark regions of open chromatin during sequencing library assembly.

同样，德国研究人员今年早些时候发表了一种名为SHARE-seq的高通量染色质可及性和基因表达测定法，该方法利用Tn5转座酶在测序文库组装过程中标记开放染色质的区域。

Scotts Valley, California-based Dovetail validated LinkPrep last year and has been launching related applications throughout 2024.

位于加利福尼亚州斯科茨谷的Dovetail去年验证了LinkPrep，并在2024年推出了相关应用程序。

Earlier this week, the company announced a partnership with CareDx on HLA genotyping for organ and stem cell matching that will combine Dovetail's LinkPrep NGS chromatin conformation assay with CareDx's next-generation sequencing-based AlloSeq Tx 17 HLA typing test.

本周早些时候，该公司宣布与CareDx合作进行器官和干细胞匹配的HLA基因分型，将Dovetail的LinkPrep NGS染色质构象测定与CareDx的下一代基于测序的AlloSeq Tx 17 HLA分型测试相结合。

'It's intended to really highlight the kind of data that can come from the combination of [CareDx's] extensive panel for genotyping [and] our technology, which can extend that genotyping into fully phased, haplotype-resolved results,' Hussainzada said.

侯赛因扎达说：“这旨在真正突出显示（CareDx）广泛的基因分型专家组和我们的技术相结合可以产生的数据类型，这可以将基因分型扩展到完全分阶段的单倍型解析结果中。”。

This combined service is offered through CareDx under early access and is currently for research use only. While Dovetail does not see itself as a diagnostics developer, Hussainzada said that the company is 'very excited about this being a potential tool in the clinical toolbox.'

这项综合服务是通过CareDx在早期访问下提供的，目前仅供研究使用。虽然Dovetail并不认为自己是一名诊断开发人员，但Hussainzada说，该公司“非常高兴这是临床工具箱中的一个潜在工具”

A spokesperson for CareDx said in an email that the partnership with Dovetail Genomics 'is aimed at driving [the] next wave of innovation by delivering haplotyping without the need for family studies.'

CareDx的一位发言人在一封电子邮件中说，与Dovetail Genomics的合作“旨在通过提供单倍型而无需进行家庭研究来推动下一波创新。”