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概述

群体基因组学研究唯一适于识别人类基因组中的罕见多基因模式,可为疾病的遗传驱动因素和我们复杂的进化史提供宝贵的见解。

Twist Bioscience has developed a genotyping panel design pipeline using a novel and proprietary algorithm that optimizes capture efficiency according to target binding thermodynamics. 

The Twist Genotyping Panel - Human 600k has been optimized to enrich over 600,000 genetic variants (covering commonly used variants in genotyping assays for population screening studies). Twist Bioscience 还提供定制的靶向富集芯片和设计支持,以捕获您的主要靶标位点。

Designed for Population Screening
Designed for Population Screening
Panel contains 594,275 probes targeted to 600,000 sites across the genome to key human variant locations
每个样本的典型测序建议:5 Gb, with imputation software as little as 1 Gb
可作为独立组合使用,也可定制其他内容
群体基因组学应用指南

了解 Twist 可实现检测灵活性、性能和规模效益的全套群体基因组学工具。

阅读应用指南

 

FlexPrep UHT 产品说明书

本文件提供了有关性能的更多细节和支持数据。  


下载产品说明书

 

新一代测序与传统变异筛选研究平台的优势对比

FEATURE
NGS (Next-Generation Sequencing)
Traditional Microarrays

Data Completeness and Scalability

Offers scalability for variant screening studies and genomic information beyond single nucleotide polymorphisms (SNPs).

Limited in scalability and may not provide comprehensive data coverage.

Customization of Content

Enables easy customization of genotyping content using target enrichment panels.

Customization is limited to predefined probe sets and arrays.

Cost and Throughput

Paired with Twist’s FlexPrep™ UHT Library Preparation Kit, NGS can overcome barriers related to cost per sample and throughput.

Requires low upfront cost but can be less cost-effective for large-scale or deep studies

群体基因组学研究唯一适于识别人类基因组中的罕见多基因模式,可为疾病的遗传驱动因素和我们复杂的进化史提供宝贵的见解。

Twist Bioscience has developed a genotyping panel design pipeline using a novel and proprietary algorithm that optimizes capture efficiency according to target binding thermodynamics. 

The Twist Genotyping Panel - Human 600k has been optimized to enrich over 600,000 genetic variants (covering commonly used variants in genotyping assays for population screening studies). Twist Bioscience 还提供定制的靶向富集芯片和设计支持,以捕获您的主要靶标位点。

Designed for Population Screening
Designed for Population Screening
Panel contains 594,275 probes targeted to 600,000 sites across the genome to key human variant locations
每个样本的典型测序建议:5 Gb, with imputation software as little as 1 Gb
可作为独立组合使用,也可定制其他内容
群体基因组学应用指南

了解 Twist 可实现检测灵活性、性能和规模效益的全套群体基因组学工具。

阅读应用指南

 

FlexPrep UHT 产品说明书

本文件提供了有关性能的更多细节和支持数据。  


下载产品说明书

 

新一代测序与传统变异筛选研究平台的优势对比

FEATURE
NGS (Next-Generation Sequencing)
Traditional Microarrays

Data Completeness and Scalability

Offers scalability for variant screening studies and genomic information beyond single nucleotide polymorphisms (SNPs).

Limited in scalability and may not provide comprehensive data coverage.

Customization of Content

Enables easy customization of genotyping content using target enrichment panels.

Customization is limited to predefined probe sets and arrays.

Cost and Throughput

Paired with Twist’s FlexPrep™ UHT Library Preparation Kit, NGS can overcome barriers related to cost per sample and throughput.

Requires low upfront cost but can be less cost-effective for large-scale or deep studies

数据

Figure 1a

Figure 1a: Twist Genotyping Panel - Human 600k achieves high concordance with deep WGS data. At 1 Gb, the hybrid capture approach achieved 99.46%(IQR: 99.18-99.74%) concordance to deep while genome sequencing data. Standard variant calling yielded a concordance of 93.56%(IQR: 93.32-93.80%).

figure 1b

Figure 1b: Twist Genotyping Panel - Human 600k achieves high concordance with array data. Genomewide non-reference concordance (NRC) obtained after imputing all data (sequencing or array) to the Gencove v6.1 imputation reference panel. 

Figure 1a

Figure 1a: Twist Genotyping Panel - Human 600k achieves high concordance with deep WGS data. At 1 Gb, the hybrid capture approach achieved 99.46%(IQR: 99.18-99.74%) concordance to deep while genome sequencing data. Standard variant calling yielded a concordance of 93.56%(IQR: 93.32-93.80%).

figure 1b

Figure 1b: Twist Genotyping Panel - Human 600k achieves high concordance with array data. Genomewide non-reference concordance (NRC) obtained after imputing all data (sequencing or array) to the Gencove v6.1 imputation reference panel. 

订购
Twist 基因分型组合 - 人 600k

110522

Twist 基因分型组合 - 人 600k,2 个反应

110523

Twist 基因分型组合 - 人 600k,12 个反应

110619

Twist 基因分型组合 - 人 600k,96 个反应
FlexPrep™ UHT 文库制备试剂盒

109220

Twist FlexPrep UHT 文库制备试剂盒,192 个样本

109223

Twist FlexPrep UHT LP 和杂交试剂盒,192 个样本

*Twist 网站和产品的使用受 Twist 条款和条件的约束,仅供研究使用。 

Twist 基因分型组合 - 人 600k

110522

Twist 基因分型组合 - 人 600k,2 个反应

110523

Twist 基因分型组合 - 人 600k,12 个反应

110619

Twist 基因分型组合 - 人 600k,96 个反应
FlexPrep™ UHT 文库制备试剂盒

109220

Twist FlexPrep UHT 文库制备试剂盒,192 个样本

109223

Twist FlexPrep UHT LP 和杂交试剂盒,192 个样本

*Twist 网站和产品的使用受 Twist 条款和条件的约束,仅供研究使用。 

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