Structural Multiplex Reference Standard (gDNA)
The Structural gDNA Multiplex Reference Standard provides biologically relevant quality control material, which can be used to assess the performance of NGS assays that detect complex structural variants.
Next generation sequencing (NGS) platforms give researchers much greater power when profiling the complex human genome. However, the use of NGS presents challenges surrounding sample variability, platform bias, and potential failure to detect biomarkers. Horizon’s standards are appropriate for any NGS library preparation including whole-genome, whole-exome, custom capture and targeted amplicon panels. Horizon has developed this NGS Reference Standard range to support the development and continued validation of Next Generation Sequencing platforms. The Structural Multiplex Reference Standard covers a wide range of mutations in defined genomic context. This standard is designed to challenge your molecular and bioinformatic work flow by providing validated copy number variants/amplifications, translocations, and large insertions/deletions. Additionally, you may examine the genomic context of variants within regions of specific GC-content (high vs. low). The Structural Multiplex includes 9 ddPCR-validated mutations, with most of them centered at 5% allelic frequency.
Highlight features of the Structural Multiplex include RET and ROS1 fusion variants, MYC-N and MET focal amplifications, and a BRCA2 variant.
The Structural Multiplex is also available in cfDNA (HD786) and FFPE (HD789) format.
With this product you are able to:
- Evaluate the effect of genomic context on variant detection
- Analyze the robustness of your bioinformatics pipeline
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Technical Data
Format
Genomic DNA
Genes Covered
AKT1, BRCA2, EGFR, FBXW7, FLT3, GNA11, KRAS, MET, MYC, NOTCH1, PIK3CA, RET, ROS1
Cosmics
1,500+
Allelic Frequencies
4.8-5.6% and 4.5 & 9.5 x amplification for the CNV
Buffer
Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Product Information
Verified Mutations
Variant Type |
Chromosome Number |
Gene |
Variant |
Expected Allelic Frequency, % |
SNV High GC |
chr.19 |
GNA11 |
Q209L |
5.6 |
SNV High GC |
chr.14 |
AKT1 |
E17K |
5.0 |
SNV Low GC |
chr.3 |
PIK3CA |
E545K |
5.6 |
Long Insertion |
chr.7 |
EGFR |
V769_D770insASV |
5.6 |
Long Deletion |
chr.7 |
EGFR |
ΔE746 - A750 |
5.3 |
Fusion |
chr.4:chr.6 |
ROS1 |
SLC34A2/ROS1 fusion |
5.6 |
Fusion |
chr.10 |
RET |
CCDC6/RET fusion |
5.0 |
CNV |
chr.7 |
MET |
amplification |
4.5 copies |
CNV |
chr.2 |
MYC-N |
amplification |
9.5 copies |
Presence confirmed in parental cell line
Variant Type |
Chromosome Number |
Gene |
Variant |
Expected Allelic Frequency, % |
SNV Low GC |
chr.12 |
KRAS |
G13D |
5.6 |
SNV High GC |
chr.9 |
NOTCH1 |
P668S |
5.0 |
Short Deletion |
chr.7 |
MET |
V237fs |
2.5 |
Short Deletion |
chr.13 |
FLT3 |
S985fs |
5.6 |
Short Deletion |
chr.13 |
BRCA2 |
A1689fs |
5.6 |
Short Deletion |
chr.4 |
FBXW7 |
G667fs |
5.6 |
SNV |
chr.7 |
EGFR |
G719S |
5.3 |
SNV |
chr.7 |
BRAF |
V600E |
18.2 |
SNV |
chr.3 |
PIK3CA |
H1047R |
16.7 |
Unit Size
1µg
Concentration
50ng/µl
General Information
Storage
4˚C
Expiry
See all product shelf life information
Quality Control
Allelic Frequency
Droplet Digital PCR™
Genotype
Sanger sequencing of locus specific PCR
Quality
Agarose gel electrophoresis
Quantification
Spectrophotometry (A260)
Please see our terms and conditions of ordering.
If you need any support, advice or additional documentation then don't hesitate to contact us here. We accept orders using the following methods:
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If you prefer to send us orders outside our online ordering system, please see the Contact Us page for telephone, fax, and email details in order to place an order. We recommend that you use our online system to identify the products you require and their respective “HD” product codes. To order offline we will require the following information:
- Product code(s) of the item(s) you wish to order (e.g. "HD123")
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- Telephone number
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Shipping Information
Shipping information for all territories can be found on our Shipping Charges page. This includes Shipping and Handling fees, as well as shipping conditions for each product range.
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