Next generation sequencing (NGS) platforms give researchers much greater power when profiling tumor samples. 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 Quality-Seq (Q-Seq) NGS Reference Standard range to support the development and continued validation of Next Generation Sequencing platforms. The Gene-Specific Multiplex Reference Standard portfolio covers multiple endogenous SNPs, insertions and deletions at defined allelic frequency ranges. The Gene-Specific Reference Standards cover EGFR or KRAS-specific mutations. These standards may be diluted with a matched wild type while the background mutations remain consistent. The Gene Specific Multiplex Standards are available in genomic DNA and FFPE format, which allows you to validate both the pre-analytical and analytical portion of your workflow. The FFPE format allows you to evaluate and optimize DNA extraction protocols without wasting precious patient samples. By multiplexing multiple gene-specific mutations in a single standard, the Gene-Specific Multiplex allows researchers to maximize the information obtained from their assay, and confirm that they are able to detect a range of potential mutants in a single gene.
With this product you are able to:
- Analyze the sensitivity of your assay
- Gain certainty of the limit of detection and limit of quantification
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Genes Covered: EGFR
Allelic Frequencies: 12.5
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Verified Mutations: The EGFR Multiplex Reference Standard has been manufactured using multiple engineered cell lines and mixed to generate multiple Allelic Frequencies in multiplex. This product has been verified by whole exome sequencing. The NGS determined allelic frequency and read depths are reported in the table below. To download the full data set, in variant caller format (VCF), please visit our exome sequencing page.
|Gene||Variant (AA)||CDS mutation||GRCh38 co-ordinates||Legacy ID||Genomic mutation ID||Expected allelic frequency (%)||NGS allelic frequency (%)||NGS read depth|
b – Variant type not called by DRAGEN (large insertion, CN variant, fusion, indel)
Exome sequencing data: Download additional information on variants present in the parental cell lines
Unit Size: 1 µg
Concentration: 50 ng/µl
Cell Line Background: RKO
Allelic Frequency: Droplet Digital PCR™
Genotype: Sanger sequencing of locus specific PCR
Quality: Agarose gel electrophoresis
Quantification: Spectrophotometry (A260)
We accept orders using the following methods.
Our online catalog and ordering system can be used to search our full menu of available Reference Standards. Select your desired reference standards and add them to the shopping basket. Your order can be submitted instantly using credit card, telephone ordering or a purchase order number as the preferred payment method.
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")
- Your name, email address, title and organization
- Shipping address and billing address with contact names
- Purchase Order number if you have one
- Telephone number
- VAT Number (European Countries only)
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.
If you’re having trouble ordering or finding what you’re looking for, or if you require something we don’t yet offer, please contact us.