集団ゲノミクスの研究は、ヒトゲノムにおける稀なパターンや多因子性のパターンを特定するのに最適であり、疾患の遺伝的ドライバーや複雑な進化の歴史について貴重な洞察をもたらします。
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). また、Twist Bioscienceは、ターゲットエンリッチメントパネルのカスタム化と設計サポートも提供し、お客様が研究対象とするターゲット遺伝子座のキャプチャを可能にします。
バリアントスクリーニング研究におけるNGSの利点と従来のプラットフォームの比較
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 |
集団ゲノミクスの研究は、ヒトゲノムにおける稀なパターンや多因子性のパターンを特定するのに最適であり、疾患の遺伝的ドライバーや複雑な進化の歴史について貴重な洞察をもたらします。
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). また、Twist Bioscienceは、ターゲットエンリッチメントパネルのカスタム化と設計サポートも提供し、お客様が研究対象とするターゲット遺伝子座のキャプチャを可能にします。
バリアントスクリーニング研究におけるNGSの利点と従来のプラットフォームの比較
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 |
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: 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: 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: 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.
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Twist Genotyping Panel - Human 600k, 2 Reactions110523
Twist Genotyping Panel - Human 600k, 12 Reactions110619
Twist Genotyping Panel - Human 600k, 96 Reactions109220
Twist FlexPrep UHT Library Preparation Kit, 192 Samples109223
Twist FlexPrep UHT LP and Hybridization Kit, 192 Samples*研究専用です。Twistのウェブサイトおよび製品をご利用になる場合、Twistの利用規約が適用されます。
110522
Twist Genotyping Panel - Human 600k, 2 Reactions110523
Twist Genotyping Panel - Human 600k, 12 Reactions110619
Twist Genotyping Panel - Human 600k, 96 Reactions109220
Twist FlexPrep UHT Library Preparation Kit, 192 Samples109223
Twist FlexPrep UHT LP and Hybridization Kit, 192 Samples*研究専用です。Twistのウェブサイトおよび製品をご利用になる場合、Twistの利用規約が適用されます。
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