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Improve CNV Detection
Exome sequencing is a powerful tool for analyzing protein-coding regions of the genome, covering about 1-2% of all bases in the human genome. While this makes genetic analysis more efficient than whole genome sequencing, it leaves out large intergenic regions—which can make detecting copy number variations (CNVs) challenging.
CNVs play a crucial role in many genetic diseases, but standard exome sequencing lacks evenly spaced probes to reliably identify them.
The Twist CNV Backbone Spike-in Panels are designed to improve CNV detection by adding regularly spaced probes across the genome. Available in three resolution levels—100 kb, 50 kb, and 25 kb—these panels allow researchers to fine-tune CNV analysis based on their specific needs.
Integrating CNV Backbone Spike-in Panels into your exome workflow is simple—just blend it with your exome panel and follow Twist’s standard target enrichment protocols.
Key Benefits
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Fine-tune CNV resolution
- Choose from 100 kb (lower resolution), 50 kb (intermediate resolution), or 25 kb (higher resolution).
- Probes are strategically tiled in intergenic regions to enhance CNV detection.
- Easily spike into your exome panel for improved whole exome sequencing.
Seamless integration with Twist exome solutions
- Designed to pair with Twist Exome 2.0 + Comprehensive Spike-in Panel.
- Available in 2-reaction (16 samples) and 12-reaction (96 samples) sizes
Select the CNV Resolution You Need
| CNV Backbone Spike-in Panel: | 25 kb | 50 kb | 100 kb |
|---|---|---|---|
| Panel Design Size (Mb) | 8.32 | 3.33 | 1.39 |
| SNVs & INDELs Called | 265138 | 207765 | 181956 |
| ALL CNVs Called | 472 | 446 | 411 |
| CNVs less than 50 kb called | 417 | 385 | 361 |
| Mean Target Coverage | 150 | 171 | 161 |
Table 1. Example data of Twist CNV Backbone Spike-in Panels. A highly characterized sample set known to contain CNVs (1) and a baseline set of 12 healthy individuals were sequenced with 2x150 reads on an Illumina NovaSeq 6000. The average number of SNVs, INDELs, and CNVs called and sequencing depth at each probe density was determined for each panel when spiked into Twist Exome 2.0 plus Comprehensive Spike-in. CNV calling was performed with a commercially available software solution (2)
(1) Coriell Institute’s CNVPANEL01 - Human CNV Reference Panel.
(2) eVai Platform (secondary workflow), enGenome Software.
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