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Mimix™ Structural Multiplex, gDNA Reference Standard

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.

For the convenience of our US-based customers, this product is now shipped from our Lafayette, Colorado site in the USA.

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. The Structural Multiplex is also available in cfDNA (HD786) and FFPE (HD789) format.

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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: GNA11, AKT1, EGFR,PIK3CA , MET, MYC-N, RET, ROS1

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 8.0

 

Product Information

Verified Mutations

The Structural Multiplex Reference Standard has been manufactured using multiple engineered cell lines and mixed to generate multiple Allelic Frequencies in multiplex. An example of the allelic frequency by whole-exome sequencing for one batch of this product is reported in the table below.

Gene Variant (AA) CDS mutation GRCh38 co-ordinates Expected allelic frequency (%) NGS allelic frequency (%) NGS read depth
GNA11 Q209L c.626A>T 19:3118944 5.60% 3.04% 362
AKT1 E17K c.49G>A 14:104780214 5.00% 4.26% 329
PIK3CA E545K c.1633G>A 3:179218303 5.60% 4.46% 1122
EGFR A767_V769dup c.2300_2308dup 7:55181317 5.60% 3.87% 1369
EGFR ΔE746 - A750 c.2235_2249del 7:55174771 5.30% 4.60% 543
ROS1 SLC34A2/ROS1 fusion N/A  N/A 5.60% b b
RET CCDC6/RET fusion N/A  N/A 5.00% b b
MET amplification N/A  N/A 4.5 copies b b
MYC-N amplification N/A  N/A 9.5 copies b b

b – Variant type not called by variant caller (large insertion, CN variant, fusion, indel)

Unit Size: 1 µg

Concentration: 50 ng/µl

Exome sequencing data: Download additional information on all exonic variants present in this product. Please note: this NGS data is not batch specific.

 

General Information

Storage: 4˚C

Expiration: 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)

Intended use: For assay developers and molecular diagnostic labs for routine performance monitoring of molecular biology assays. Research use only. Not for diagnostic procedures.