联盟组合

Gene fusions often act as oncogenic driver mutations in various cancer types. 快速准确地检测这些融合可以为临床行动提供信息并推动治疗决策。Twist Alliance CeGaT RNA 融合组合试剂盒是一种基于 RNA 的富集组合，与传统方法相比，它提供了优化灵敏的靶向方法来研究基因融合。

This panel includes 160 fusion genes associated with approximately 30 cancer types. CeGaT, a leading genetic diagnostic and sequencing company located in Europe, selected the fusion genes. The design not only detects known gene fusions but is also used to identify novel gene fusions.

The panel is optimized and validated for use with the Twist RNA Library Prep Kit for a complete end-to-end workflow with exceptional performance. 基于 RNA 的富集方法具有高捕获效率，可提高检测的灵敏度。该组合非常适合用于筛选肿瘤学样本，为确定治疗方案提供信息或发现用于肿瘤分类的新型融合*。

可靠地富集 RNA 基因融合

• Expert content design through collaboration
with CeGaT
• Optimized workflow with Twist RNA Library
Prep kit
• Twist 核心富集技术大幅提高捕获效率

组合设计

• 160 fusion-associated genes with 66 genes in the breakpoint design
• 7,394 Probes
• 涵盖多种不同的癌症类型

RNA 融合产品 SKU

106067 Twist Alliance CeGaT RNA Fusion Panel – 3 MB, 2 Rxn Kit

106101 Twist Alliance CeGaT RNA Fusion Panel – 3 MB, 12 Rxn Kit

106100 Twist Alliance CeGaT RNA Fusion Panel – 3 MB, 96 Rxn Kit

Enables sequencing of genes that are difficult or impossible to fully sequence with short-read technology. 

• 靶向 389 个基因 (20 Mb)

• 关键靶标包括 GBA、SMN1/2

全基因定相且完全覆盖 GBA 基因

订购信息

106747 Twist Alliance Dark Genes Panel, 2 Reaction Kit

106748 Twist Alliance Dark Genes Panel, 12 Reaction Kit

106914 Twist Alliance Dark Genes Panel, 96 Reaction Kit

关注药物基因组学中对药物代谢和患者治疗反应至关重要的重要基因。

• 靶向 49 个基因 (2 Mb)
• 关键靶标包括 CYP2D6、HLA-A、HLA-B

CYP2D6 的准确星号等位基因识别

订购信息

106749 Twist Alliance Long-Read PGx Panel, 2 Reaction Kit

106750 Twist Alliance Long-Read PGx Panel, 12 Reaction Kit

106915 Twist Alliance Long-Read PGx Panel, 96 Reaction Kit

甲基化测序作为一种灵敏的工具，可检测和追踪癌细胞来源。但同任何测序项目一样，需要权衡覆盖的广度和深度。如果您准备专注于研究癌症特异性甲基化模式，则可使用本组合。Experts at AnchorDx partnered with Twist to create a custom target enrichment panel focused on methylation targets relevant to 31 different cancers.

The Twist Alliance Pan-cancer Methylation Panel - 1.5 MB provides deep coverage of clinically focused targets that allow for the study of methylation patterns that may be relevant to early cancer detection and diagnosis from tumor and liquid biopsy samples. Designed in collaboration with experts at AnchorDx and constructed using Twist’s world-class oligonucleotide synthesis platform, this panel provides a high on-target rate, high uniformity, and has been validated with the Twist Methylation workflow using liquid biopsy samples of breast cancer, colorectal cancer, and non-small cell lung cancer.

有兴趣查看所涵盖的基因吗？Contact us at [email protected]

组合设计

31 种癌症类型、47 个疾病实体，基于 TCGA 数据库

13,090 个探针 

126,000 CpG sites involved

~12,000 Differentially Methylated Regions (DMRs)

9,000 of 12,000 (74%) overlapped with the CpG islands

资源

Twist 联盟泛癌种甲基化组合资源文件

订购信息

104694 Twist Alliance Pan-cancer Methylation Panel - 1.5 MB, 2 Reactions

104695 Twist Alliance Pan-cancer Methylation Panel - 1.5 MB, 12 Reactions

104696 Twist Alliance Pan-cancer Methylation Panel - 1.5 MB, 96 Reactions

Twist Methylation Workflow:

101976 NEBNext® EM-seq™ Kit for Twist Targeted Methylation Sequencing, 96 Samples*

103557 Twist Methylation Enhancer, 12 Reactions

100578 Twist Universal Blocker, 12 Reactions

100983 Twist Binding and Purification Beads Kit, 12 Reactions

101174 Twist Fast Hybridization and Wash Kit, 12 Reactions

103496 Twist Targeted Methylation Sequencing Workflow, 96x12 Reactions

*2 reaction and 12 reaction sizes are also available for enrichment

古人类 DNA 组合是与 Harvard 大学 David Reich 实验室合作开发的，用于研究古人类 DNA 样本（通常是从骨骼和牙齿中提取的）的遗传变异。该组合靶向 135 万个 SNP，其中作为一个子集包括人类基因组中 123 万个多态性位点的全部，这些多态性位点最初见于 Fu 等人在《自然》（2015）上发表的论文，确保使用 Twist 古人类 DNA 组合生成的新数据与已发表的成千上万古人类个体的数据相兼容。由于能够高度富集人类 DNA 片段，该组合获得基因组规模数据的测序成本显著低于鸟枪法测序。

This original panel was optimized using Twist’s double stranded capture probes and hybridization capture reagents resulting in high genome coverage and reduced allelic bias as seen in Rohland, Mallick et al. Genome Research 2022, PMID: 36517229.

请联系 Twist 客户支持，获取关于检测设置的建议。

订购信息

Twist 联盟古人类 DNA 组合

107479Twist Alliance Ancient Human DNA Panel - 13 Mb, 12 reactions

106658Twist Alliance Ancient Human DNA Panel - 13 Mb, 96 reactions

104562Twist High Concentration Mitochondrial Panel, 96 reactions

仅供研究使用，不得用于诊断

了解犬种之间的遗传变异对于了解性状的遗传调控及犬类疾病基础和病情发展至关重要。因此，外显子组等全面的基因组合是改善兽医诊断及相关临床医学的关键。这些类型的 NGS 组合还将加速研究进程，更深入地了解犬类癌症及潜在疗法。

我们与博德研究所的 Karlsson 试验室合作开发了 Twist 联盟犬类外显子组，为犬类基因组学研究提供了合适的工具。此外，研究还发现人类和犬类肿瘤之间存在基因相似性，如 CNV、差异基因表达和结构染色体异常 1，因此犬类基因组研究对人类医学研究也有好处。

Twist 联盟犬类外显子组组合的设计包括以下目标

• 覆盖犬类基因的编码外显子
• 实现犬类与人类基因组之间的比较基因组研究
• 包括人类癌症中已知的重要区域
• 实现经济高效的深度测序
• 这个组合包含超过 17k 个基于 CanFam3.1 的基因/靶标，另外还覆盖了与犬类癌症有关的基因/靶标。

The panel contains gene targets along with COSMIC mutations associated with each of these genes as detailed in McDonald et al.2- these genes were tiled 2x for higher coverage. FOXA1 和 TERT 启动子采用 4x 平铺密度。按照我们的标准做法，所有其他区域采用 1x 平铺密度。

Twist 联盟犬类外显子组包含由顶尖的犬类癌症研究人员精心策划的内容，并结合了 Twist 强劲的组合性能，为研究人员研究犬类疾病和人类罕见病提供了理想的工具。

1 Overgaard,N.H.,Fan,T.M.,Schachtschneider,K.M.,Principe,D.R.,Schook,L.B.,& Jungersen, G. (2018). Of Mice, Dogs, Pigs, and Men: Choosing the Appropriate Model for Immuno-Oncology Research. ILAR journal, 59(3), 247–262.

2 McDonald, J.T., Kritharis, A., Beheshti A., Pilichowska M., 4, Burgess K., Luisel Ricks-Santi L., McNiel E., London C.B., Ravi D., 2, Andrew M Evens A.M., (2018) Comparative oncology DNA sequencing of canine T cell lymphoma via human hotspot panel. Oncotarget 9(32), 22693–22702

订购信息

105305 Twist Alliance Canine Exome - 40.5 Mb, 2 Reactions, Kit

105306 Twist Alliance Canine Exome - 40.5 Mb, 12 Reactions, Kit

105307 Twist Alliance Canine Exome - 40.5 Mb, 96 Reactions, Kit

历史基因分型工具的普遍问题之一是它们偏向于少数种族，使得大部分人类在传统基因分型工作流程中的代表性不足。例如，微阵列平台仅提供偶尔更新的固定内容，更加剧了这一挑战。

研究人员可以通过基于靶标捕获的 NGS 工作流程以及专为多样性和灵活性而设计的探针组合，来解决这些低效和不公平问题。

作为 Twist 不断完善的靶向 GBS 产品组合之一，Twist 多样性 SNP 组合为研究人员提供了一种全新、灵活、无种族偏向性的金标准，可用于 GBS。

科学家可以自由地使用该组合作为一种独立的基因分型组合，或添加到 Twist 人全面外显子组组合中。其设计也可定制——可在 Twist 的 DNA 合成平台上合成涵盖目标区域的额外探针。

Twist 多样性 SNP 组合的内容是与 Regeneron 遗传学中心的领导者合作策划的。该组合旨在整合到现有的全自动化外显子组处理工作流程中，实现碱基识别和突变填充。

Genotype imputations can be calculated using open-source tools available. 如需获取填充指南以开始使用填充分析工具，请联系客户支持。

注： 多样性 SNP 组合内容尚未通过完整的 Twist 工作流程进行充分验证。请联系 Twist 客户支持，获取关于检测设置的建议。

PROBES: 640k

• SNPs COVERED: 1.4M
• SENSITIVITY: Imputation of most variants down to MAF of 0.1% or less

资源

应用说明：采用 Twist 靶向富集组合进行基于捕获的 SNP 基因分型

网络研讨会：对 10 万人进行测序：教育、挑战、希望 - Gonçalo Abecasis, Regeneron 遗传学中心

订购信息

104374 Twist Diversity SNP Panel, 2 Reactions

104375 Twist Diversity SNP Panel, 12 Reactions

104376 Twist Diversity SNP Panel, 96 Reactions

104393 Twist Diversity SNP Panel, 16 samples complete kit with Standard Hyb

104394 Twist Diversity SNP Panel, 96 samples complete kit with Standard Hyb

在常规检测未能提供诊断的情况下，医生通常会转向利用 DNA 测序组合来寻求答案，尤其是当怀疑患者患有遗传性疾病时。 

Victorian Clinical Genetics Services (VCGS) 凭借数十年的临床基因组学经验，与 Twist 合作设计了一种诊断组合——Twist 联盟 VCGS 外显子组 - 40.1 MB，可覆盖整个外显子组，专门覆盖临床相关基因 (Mendeliome)。在设计该组合时，特别注意确保临床相关位点的额外覆盖度，这些位点位于外显子组传统靶向的基因编码区（即非编码区中的已知致病位点）之外。

The Twist Alliance VCGS Exome - 40.1 MB panel is a, highly uniform panel that can help streamline the identification of heritable disease-linked alleles, be it through carrier screening or pre- and post-natal testing.

- Total probes 425.4K

- Includes the Twist Comprehensive Exome of 394.1K probes

- and content curated by VCGS of 31.3K probes

订购信息

104282 Twist Alliance VCGS Exome - 40.1 MB, 2 Reactions Kit

104283 Twist Alliance VCGS Exome - 40.1 MB, 12 Reactions Kit

104284 Twist Alliance VCGS Exome - 40.1 MB, 96 Reactions Kit

Resources: 

[.bed 文件] Twist 联盟 VCGS 外显子组 - 40.1 MB

Twist 联盟临床研究外显子组有助于支持博德研究所基因组学平台，并使用经验证的、来自临床患者样本的数据进行设计。该组合利用了 Twist 灵活的 NGS 平台，可轻松、快速地定制内容，进而对外显子组进行全面研究，并补充富集了与癌症以及罕见病和遗传性疾病相关的基因组临床相关区域。By leveraging the high uniformity of Twist NGS probes, the assay enables a per sample cost and throughput efficiency that Broad has already leveraged to process more than 250,000 samples, keeping it on the leading edge of exome sequencing.

该组合的全面设计包括 Twist 核心外显子组、线粒体基因组和其他经过验证的编码和非外显子目标区域（如 ACMG73 基因）、补充覆盖了 OMIM 和 COSMIC 数据库中的区域，以及博德研究定义的特异性靶标。 

订购信息

104032 Twist Alliance Clinical Research Exome - 34.9 MB, 2 Reactions Kit

104033 Twist Alliance Clinical Research Exome - 34.9 MB, 12 Reactions Kit

104034 Twist Alliance Clinical Research Exome - 34.9 MB, 96 Reactions Kit

资源

[Bed 文件] Twist 联盟临床研究外显子组

Twist 联盟 CNTG 遗传性肿瘤学组合包括选定的 72 个与癌症相关的基因，并覆盖了 ≥ 99.5% 的目标区域。该组合可用于鉴定遗传性肿瘤的遗传易感性，包括乳腺癌、胃肠道肿瘤、Li-Fraumeni 综合征、MEN1、MEN2、副神经节瘤等。

订购信息

105493 Twist Alliance CNTG Hereditary Oncology Panel- 0.2MB, 2 Rxn Kit

105494 Twist Alliance CNTG Hereditary Oncology Panel- 0.2MB, 12 Rxn Kit

105495 Twist Alliance CNTG Hereditary Oncology Panel- 0.2MB, 96 Rxn Kit

Twist 联盟 CNTG 罕见病组合包括 2,500 多个与罕见病相关联的基因，覆盖了 ≥ 99.5% 的目标区域，为研究人员提供了一种更简化的工具，无需完整足迹即可捕获 CNTG 外显子组中关键的罕见病覆盖度。This panel can be used to detect genes associated with but not limited to rare treatable diseases, early onset childhood disorders, cardiac disorders, neurodegenerative diseases, skeletal abnormalities, and metabolic disorders.

Twist Alliance Centogene Rare Disease Panel 78.8k probes

订购信息

105466 Twist Alliance CNTG Rare Disease Panel-7.6MB, 2 Reactions

105467 Twist Alliance CNTG Rare Disease Panel-7.6MB, 12 Reactions

105468 Twist Alliance CNTG Rare Disease Panel-7.6MB, 96 Reactions

Diagnosis of rare diseases presents many challenges for physicians and can lead patients on a long diagnostic odyssey. DNA sequencing panels can provide physicians answers to these challenges and resolution for patients. As a leader in rare disease diagnostics, CENTOGENE has partnered with Twist to design a series of target enrichment capture panels, providing comprehensive tools to aid in rare disease and hereditary oncology diagnosis.

Twist 联盟 CNTG 外显子组 - 41 MB 能够高度均一的覆盖整个外显子组，并完整覆盖线粒体基因组。Twist 联盟 CNTG 外显子组 - 41 MB 将 CENTOGENE 生物/数据库提供的见解与卓越的组学技术相结合，相比于标准的全外显子组测序，提高了诊断率，并涵盖包括 > 7,000 种罕见疾病在内的广泛疾病。

组合信息

• 探针总数 483K
• Twist 人类全面外显子组 396.1K
• Twist 线粒体组合 139
• Twist Alliance Centogene Rare Disease Panel 78.8k
• Centogene Spike-In 7.8k 

订购信息

105459 Twist Alliance CNTG Exome - 41 MB, 2 Reactions

105461 Twist Alliance CNTG Exome - 41 MB, 12 Reactions

105462 Twist Alliance CNTG Exome - 41 MB, 96 Reactions