Improve CNV Detection with Twist CNV Backbone Spike-in Panels
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.
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.
Improve CNV Detection with Twist CNV Backbone Spike-in Panels
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.
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.
110756
Twist 25kb CNV Backbone Spike-in Panel, 2 Reaction kit110757
Twist 25kb CNV Backbone Spike-in Panel, 12 Reaction kit110758
Twist 50kb CNV Backbone Spike-in Panel, 2 Reaction kit110759
Twist 50kb CNV Backbone Spike-in Panel, 12 Reaction kit110760
Twist 100kb CNV Backbone Spike-in Panel, 2 Reaction kit110761
Twist 100kb CNV Backbone Spike-in Panel, 12 Reaction kit104132
Twist Exome 2.0, 2 Reactions, Kit104134
Twist Exome 2.0, 12 Reactions, Kit104136
Twist Exome 2.0, 96 Reactions, Kit105034
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 2 Reactions105035
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 12 Reactions105036
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 96 Reactions*For research use only. use of Twist's website and products are subject to Twist's Terms and Conditions.
110756
Twist 25kb CNV Backbone Spike-in Panel, 2 Reaction kit110757
Twist 25kb CNV Backbone Spike-in Panel, 12 Reaction kit110758
Twist 50kb CNV Backbone Spike-in Panel, 2 Reaction kit110759
Twist 50kb CNV Backbone Spike-in Panel, 12 Reaction kit110760
Twist 100kb CNV Backbone Spike-in Panel, 2 Reaction kit110761
Twist 100kb CNV Backbone Spike-in Panel, 12 Reaction kit104132
Twist Exome 2.0, 2 Reactions, Kit104134
Twist Exome 2.0, 12 Reactions, Kit104136
Twist Exome 2.0, 96 Reactions, Kit105034
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 2 Reactions105035
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 12 Reactions105036
Twist Exome 2.0 plus Comprehensive Exome Spike-in, 96 Reactions*For research use only. use of Twist's website and products are subject to Twist's Terms and Conditions.
Product Sheet
Technical Note
Protocol
Protocol
Library Preparation EF 2.0 with Enzymatic Fragmentation and Twist Universal Adapter System
