Structural Multiplex Reference Standard (gDNA)

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:

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: 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)