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.

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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

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

Presence confirmed in parental cell line

Unit Size

1 µg

Concentration

50 ng/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)