Twist CNV Backbone Spike-in Panel with exome for cytogenetic research
Stronger CNV Detection — Without Changing Your Exome Workflow.

Copy number variants are easy to miss when exomes leave gaps between probes. That translates to diagnostic blind spots, repeat testing, and extra time spent 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.

But... Why These Panels?

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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    Why It Matters to You

    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.

    Select the CNV Resolution You Need

    Select CNV Resolution You Need

    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. 

    Related Products

    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.

    Ordering
    Higher Resolution: 

    110756  –  Twist 25kb CNV Backbone Spike-in Panel, 2 Reaction kit

    110757  –  Twist 25kb CNV Backbone Spike-in Panel, 12 Reaction kit

    Intermediate Resolution:

    110758 –  Twist 50kb CNV Backbone Spike-in Panel, 2 Reaction kit

    110759 –  Twist 50kb CNV Backbone Spike-in Panel, 12 Reaction kit

    Lower Resolution: 

    110760 –  Twist 100kb CNV Backbone Spike-in Panel, 2 Reaction kit

    110761 –  Twist 100kb CNV Backbone Spike-in Panel, 12 Reaction kit

    Exome Panels

    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

    For guidance on integrating these panels into your operations, Decode Science can provide personalised support and local assistance.
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