Twist Genotyping Panel - Human 600k

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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.

Designed for Population Screening

Panel contains 594,275 probes targeted to 600,000 sites across the genome to key human variant locations
Typical sequencing recomendation per sample: 5 Gb, with imputation software as little as 1 Gb
Available as a stand alone panel or can be customized with additional content

Pop Gen App Note

Read about Twist's suite of pop gen tools that enable assay flexibility, performance and economies of scale.

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FlexPrep UHT Product Sheet

This document provides more details and supporting data on performance.

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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

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.

Genotyping 600k panel technical note

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Twist FlexPrep UHT Library Preparation Kit with Enzymatic Fragmentation and Twist UDI Primers

Genotyping Panel - Human 600k

PRODUCT HIGHLIGHT

Designed for Population Screening

FEATURE

NGS (Next-Generation Sequencing)

Traditional Microarrays

Technical Note

Protocol

Technical Document

Product Sheet