HiFi Long-Read Sequencing Panel Supports Comprehensive Analysis of 20 Genes Associated With Neurological Disease

HiFi长读测序小组支持对20种与神经系统疾病相关的基因进行全面分析

MENLO PARK, Calif., March 12, 2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the PureTarget repeat expansion panel, a new solution designed to enable the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions.

加利福尼亚州门洛帕克，2024年3月12日/PRNewswire/--PacBio（纳斯达克：PACB）是高质量，高精度测序解决方案的领先开发商，今天宣布了PureTarget重复扩增面板，这是一种新的解决方案，旨在全面分析与严重神经系统疾病相关的20个基因，包括挑战串联重复扩增的基因测序。

The new long-read workflow can minimize iterative analysis using legacy technology, and reduce the time needed to identify disease-causing variants and associated methylation signatures..

新的长期阅读工作流程可以使用传统技术最大限度地减少迭代分析，并减少识别致病变异和相关甲基化特征所需的时间。。

'HiFi sequencing is uniquely capable of comprehensively characterizing the germline and somatic variation of tandem repeats1 which cause dozens of neurological diseases.2 Our new PureTarget repeat expansion panel is designed to target these repeat expansions to help our customers understand the underpinnings of tandem repeats,' said Christian Henry, President and Chief Executive Officer of PacBio.

“高保真测序能够全面表征串联重复序列1的种系和体细胞变异，这些变异会导致数十种神经系统疾病。2我们新的PureTarget重复序列扩展面板旨在针对这些重复序列扩展，以帮助我们的客户了解串联重复序列的基础，”克里斯蒂安·亨利说，PacBio总裁兼首席执行官。

'This product uses a differentiated method to do targeted long-read sequencing of DNA in its pure state. PureTarget libraries retain methylation signatures, which saves our customers from having to run a separate assay while providing a complete picture for disease genes like FMR1. With a simplified workflow and fast turnaround time, we believe this panel could bring PacBio an increased commercial opportunity in the form of tens of thousands of samples in the world's largest laboratories.'.

“该产品使用差异化的方法对纯状态的DNA进行靶向长读测序。PureTarget文库保留了甲基化特征，这使我们的客户不必进行单独的检测，同时为FMR1等疾病基因提供了完整的图片。通过简化的工作流程和快速的周转时间，我们相信这个小组可以在世界最大的实验室中以数万个样品的形式为PacBio带来更多的商业机会。”。

Targeted sequencing is an ideal method for researchers and commercial laboratories looking to cost-effectively study and analyze the role of specific genes and gene variants. The 20 genes that comprise the PureTarget repeat expansion panel are implicated in a wide range of debilitating neurological diseases that afflict children and adults including ataxia, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Fragile-X disease..

对于希望经济高效地研究和分析特定基因和基因变异的作用的研究人员和商业实验室来说，靶向测序是一种理想的方法。组成PureTarget重复序列扩增小组的20个基因涉及多种使儿童和成人衰弱的神经系统疾病，包括共济失调，亨廷顿舞蹈病，强直性肌营养不良，肌萎缩性侧索硬化症（ALS），额颞叶痴呆（FTD）和脆性X病。。

'This new kit has opened up really exciting opportunities for our research program focused on repeat expansions and inherited eye disease,' said Alice Davidson, Associate Professor at University College London. 'The relatively lower DNA input requirements, coupled with high read depth output, has allowed us to uncover levels of repeat mosaicism and instability at our repeat locus of interest with affected cell populations.'.

伦敦大学学院（University College London）副教授爱丽丝·戴维森（Alice Davidson）说：“这种新试剂盒为我们专注于重复扩张和遗传性眼病的研究项目提供了非常令人兴奋的机会。”相对较低的DNA输入要求，再加上较高的读取深度输出，使我们能够在受影响的细胞群中发现我们感兴趣的重复基因座的重复镶嵌和不稳定性水平。”。

Continuing the commitment to deliver comprehensive solutions, PacBio has prioritized delivering end-to-end workflows with their latest products. The PureTarget Repeat Expansion Panel workflow utilizes the recently announced Nanobind PanDNA kit, ensuring robust results optimized for Revio and Sequel IIe users.

PacBio继续致力于提供全面的解决方案，并优先使用其最新产品提供端到端的工作流程。PureTarget重复扩展面板工作流程利用了最近发布的Nanobind PanDNA试剂盒，确保为Revio和Sequel IIe用户优化了强大的结果。

Customers can multiplex up to 48 samples on the PacBio Revio sequencing system and 24 samples on the PacBio Sequel IIe sequencing system. Additionally, PacBio provides intuitive data analysis for genotyping through a new workflow driven by Tandem Repeat Genotyping Tools (TRGT), as recently featured in Nature Biotechnology..

客户可以在PacBio Revio测序系统上多路复用多达48个样品，在PacBio Sequel IIe测序系统上多路复用24个样品。此外，PacBio通过由串联重复基因分型工具（TRGT）驱动的新工作流程，为基因分型提供了直观的数据分析，最近在Nature Biotechnology上有报道。。

The new PureTarget panel is expected to be available for shipment starting March 25, 2024. More information about PacBio application kits is available here.

新的PureTarget面板预计将于2024年3月25日开始装运。有关PacBio应用程序工具包的更多信息，请参见此处。

About PacBio

关于PacBio

PacBio (NASDAQ: PACB) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies.

PacBio（纳斯达克股票代码：PACB）是一家领先的生命科学技术公司，正在设计、开发和制造先进的测序解决方案，以帮助科学家和临床研究人员解决遗传复杂的问题。我们的产品和技术源自两项高度分化的核心技术，专注于准确性、质量和完整性，其中包括我们的HiFi长读测序和SBB®短读测序技术。

Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio..

我们的产品解决了广泛的研究应用问题，包括人类种系测序、植物和动物科学、传染病和微生物学、肿瘤学以及其他新兴应用。有关更多信息，请访问www.pacb.com并关注@PacBio。。

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

PacBio产品仅供研究使用。不用于诊断程序。

Forward-Looking Statements

前瞻性声明

This press release contains 'forward-looking statements' within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the availability or expected availability, uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including the PureTarget Repeat Expansion Panel; expectations with respect to commercialization, market opportunities, anticipated reductions in customer time and costs to identify variants of interest, and the development and shipment of PacBio products, including the PureTarget Repeat Expansion Panel; among other future events.

本新闻稿包含经修订的《1934年证券交易法》第21E节和《1995年美国私人证券诉讼改革法》所指的“前瞻性声明”。除历史事实陈述外，所有陈述均为前瞻性陈述，包括与PacBio产品或技术（包括PureTarget Repeat Expansion Panel）的可用性或预期可用性、用途、覆盖范围、优势、质量或性能或使用益处或预期益处有关的陈述；对商业化、市场机会、客户识别感兴趣变体的时间和成本的预期减少，以及PacBio产品（包括PureTarget重复扩展面板）的开发和装运的预期；以及其他未来的事件。

You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in developing, manufacturing, launching, marketing and selling new products; rapidly changing technologies and extensive competition in genomic sequencing; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; potential product performance and quality issues and potential delays in development timelines; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with general macroeconomic conditions and geopolitical instability.

您不应过度依赖前瞻性陈述，因为它们受到假设、风险和不确定性的影响，并可能导致实际结果和结果与当前预期结果产生重大差异，包括开发、制造、发布、营销和销售新产品所固有的挑战；快速变化的技术和基因组测序的广泛竞争；PacBio产品和正在开发的产品的组件或材料供应或制造中断或延迟；潜在的产品性能和质量问题以及开发时间表的潜在延迟；声称侵犯专利和专有权利或试图使PacBio的专利或专有权利无效的第三方索赔；以及与总体宏观经济状况和地缘政治不稳定相关的其他风险。

Additional factors that could materially affect actual results can be foun.

可能会对实际结果产生重大影响的其他因素可能会出现。

Contacts

联系人

Investors:

投资者：

Todd Friedman

陶德·弗莱德曼

ir@pacificbiosciences.com

ir@pacificbiosciences.com

Media:

媒体：

Lizelda Lopez

莉泽尔达·洛佩兹

pr@pacificbiosciences.com

pr@pacificbiosciences.com

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SOURCE Pacific Biosciences of California, Inc.

来源：加利福尼亚太平洋生物科学公司。

Company Codes: NASDAQ-NMS:PACB

公司代码：NASDAQ-NMS：PACB