CNV Backbone Spike-in Panels
/in NGS, Partners, Twist/by Harshita Sharma
Large copy number variations can be easy to miss when exome sequencing focuses on exonic regions – leading to blind spots, repeat testing, and extra time interpreting unclear data. By spiking in Twist’s CNV Backbone Panels, you give your exome run the evenly spaced genomic coverage it needs to reliably surface clinically relevant CNVs — especially the ones standard exomes struggle with.
Available in 100 kb, 50 kb, and 25 kb resolutions, the CNV Backbone Panels strengthen your detection sensitivity while keeping your workflow identical. Blend it into your existing exome panel, follow your standard Twist enrichment protocol, and immediately get more confident CNV calls backed by consistent probe tiling across intergenic regions.
1. Fine-Tune CNV Resolution
Choose from 100 kb, 50 kb, or 25 kb probe spacing to match your CNV detection needs. Strategically tiled probes in intergenic regions enhance sensitivity for even small CNVs.
2. Seamless Workflow Integration
Easily spike into your Twist Exome 2.0 panel and follow standard enrichment protocols—no workflow disruption, no extra training required.
3. Evidence-Based Performance
Validated with highly characterized samples, the panels consistently improve CNV calls, including those smaller than 50 kb, boosting confidence in your results.
4. Flexible Panel Sizes
Available in 2-reaction (16 samples) and 12-reaction (96 samples) formats to fit both small-scale research and high-throughput lab workflows.
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Reliable CNV detection isn’t just a technical metric—it directly impacts research outcomes, diagnostic accuracy, and patient care. Standard exome sequencing often misses CNVs due to uneven probe coverage, creating blind spots in your analysis. Twist CNV Backbone Spike-in Panels bridge those gaps, ensuring that even subtle copy number changes are identified, so you can make confident, data-driven decisions.
For labs and clinicians, this means fewer follow-up tests, reduced time spent troubleshooting ambiguous results, and a smoother workflow. You can trust that your exome sequencing captures the variations that truly matter, whether for rare disease research, clinical diagnostics, or high-throughput screening.
Moreover, the ability to choose between 25 kb, 50 kb, or 100 kb resolution gives you control over sensitivity and throughput, aligning with your project goals and patient population needs. Evidence-based validation demonstrates improved detection of CNVs—including those smaller than 50 kb—so your results aren’t just comprehensive, they’re actionable.
By integrating these panels into your existing workflow, you enhance not only the quality of your data but also the efficiency of your lab operations, freeing time and resources for deeper analysis and patient-focused outcomes.
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 2×150 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.
Twist Exome 2.0
Leading exome solution covering key genetic databases with high uniformity
Twist Standard Hybridization Reagent Kit
Reagents for high-efficiency NGS target enrichment (TE).
Library Preparation Enzymatic Fragmentation Kit 2.0
Enzymatic DNA fragmentation for efficient library prep.
110756 – Twist 25kb CNV Backbone Spike-in Panel, 2 Reaction kit
110757 – Twist 25kb CNV Backbone Spike-in Panel, 12 Reaction kit
110758 – Twist 50kb CNV Backbone Spike-in Panel, 2 Reaction kit
110759 – Twist 50kb CNV Backbone Spike-in Panel, 12 Reaction kit
110760 – Twist 100kb CNV Backbone Spike-in Panel, 2 Reaction kit
110761 – Twist 100kb CNV Backbone Spike-in Panel, 12 Reaction kit
104132 – Twist Exome 2.0, 2 Reactions, Kit
104134 – Twist Exome 2.0, 12 Reactions, Kit
104136 – Twist Exome 2.0, 96 Reactions, Kit
105034 – Twist Exome 2.0 plus Comprehensive Exome Spike-in, 2 Reactions
105035 – Twist Exome 2.0 plus Comprehensive Exome Spike-in, 12 Reactions
105036 – Twist Exome 2.0 plus Comprehensive Exome Spike-in, 96 Reactions
*For research use only

Chris Wicky
Clinical Genomics Manager - ANZ
& Country Manager - NZ

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