Twist Human Comprehensive Exome and Twist Human Exome 2.0+ are two of the capture solutions for human exome sequencing from Twist Bioscience.
The combination of Twist’s proprietary double-stranded DNA (dsDNA) probes and its library preparation and capture reagents achieves the best market uniformity of coverage and the lowest duplicate rate, generating the highest quality data possible.
The Twist Comprehensive Exome panel is designed to capture a total of 36.8 Mb of human protein-coding genes (Figure 1), covering more than 99% of the RefSeq, CCDS, and GENCODE databases.
Twist Exome 2.0+ is designed based on the Comprehensive panel content, with additional probes added to capture clinically relevant regions, including intronic variants classified as pathogenic or likely pathogenic in ClinVar, covering 100% of this database (Table 1).
Like the Comprehensive panel, Twist Exome 2.0+ offers greater uniformity and a lower rate of duplicate reads. This results in fewer wasted reads and the achievement of maximum coverage of target sequences at the lowest cost (Figure 2).
Key Aspects:
The kits include individual library preparation reagents: by mechanical fragmentation or enzymatic fragmentation, using Unique Dual Indices; and the necessary reagents for the enrichment of regions of interest, through Standard (Standard Hyb) or Rapid (Fast Hyb) hybridization, offering flexibility to users, but without compromising data quality.
Twist Bioscience protocols and reagents are compatible with different types of starting samples (whole blood DNA, paper blood, saliva, FFPE, cfDNA) and can include UMIs for ultra-sequencing needs.
The obtained libraries are compatible with Illumina’s Next Generation Sequencing platforms.
Customization
The content of both exomes can easily be expanded with the option of Twist Custom Blended Panels, so that additional content of interest can be captured.
In this regard, Twist already has a “spike-in” of probes that cover the human mitochondrial genome, which can be added to the exome capture, to capture both nuclear and mitochondrial DNA, and be able to study both to the desired depth depending on the dilution of the mitochondrial panel used.
Automation
Twist protocols are easily automatable on robots like Hamilton, Perkin-Elmer, etc.
