Population genomics studies are uniquely suited to identifying rare and polygenic patterns in the human genome, shining valuable light on both the genetic drivers of disease and our complex evolutionary history.
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 also offers custom target enrichment panels and design support to enable the capture of your primary target loci.
NGS Advantages vs. Traditional Platforms for Variant Screening Studies
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 |
Read about Twist's suite of pop gen tools that enable assay flexibility, performance and economies of scale.
Population genomics studies are uniquely suited to identifying rare and polygenic patterns in the human genome, shining valuable light on both the genetic drivers of disease and our complex evolutionary history.
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 also offers custom target enrichment panels and design support to enable the capture of your primary target loci.
NGS Advantages vs. Traditional Platforms for Variant Screening Studies
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 |
Read about Twist's suite of pop gen tools that enable assay flexibility, performance and economies of scale.
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.
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*For research use only. use of Twist's website and products are subject to Twist's Terms and Conditions.
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*For research use only. use of Twist's website and products are subject to Twist's Terms and Conditions.
Technical Note
Protocol
Technical Document
Product Sheet
Protocol
Twist FlexPrep UHT Library Preparation Kit with Enzymatic Fragmentation and Twist UDI Primers
