Tru-Q 1 (5% Tier) Reference Standard

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 Tru-Q DNA Reference Standard portfolio covers multiple endogenous SNPs, insertions and deletions. Tru-Q NGS DNA Reference Standard 1 (5% Tier) covers 10 mutations at 5% allelic frequency in genomic DNA format. These may be diluted to even lower allelic frequencies using our Tru-Q 0 Wild Type standard. Furthermore, because the Tru-Q series has 4 different standards at the 5% alleleic frequency range, you may rotate these as “blinded” samples for proficiency testing in your laboratory. These standards are available only in gDNA format.

With this product you are able to:

Analyze the sensitivity and specificity 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

Technical Data

Format: Genomic DNA

Genes Covered: BRAF, EGFR, FLT3, IDH1, JAK2, KRAS, MEK1 (MAP2K1), NOTCH1, NRAS, PIK3CA

Cosmics: 1,500+

Allelic Frequencies: 5% for verified variants

Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1

Product Information

Verified Mutations: The Tru-Q Reference Standard has been manufactured using ten engineered cell lines and mixed to generate a 5% Allelic Frequency multiplex sample:

Gene	Variant (AA)	CDS mutation	GRCh38 co-ordinates	Cosmic ID	Expected allelic frequency (%)
BRAF	V600E	c.1799T>A	7:140753336	COSV56056643	7.70
BRAF	V600K	c.1798_1799delinsAA	7:140753336-140753337	COSV56057713	3.80
EGFR	G719S	c.2155G>A	7:55174014	COSV51767289	16.70
EGFR	T790M	c.2369C>T	7:55181378	COSV51765492	4.20
FLT3	ΔI836	c.2508_2510del	13:28018500-28018502	COSV54043228	5.00
IDH1	R132C	c.394C>T	2:208248389	COSV61615256	5.00
JAK2	V617F	c.1849G>T	9:5073770	COSV67569051	5.00
KRAS	G12A	c.35G>C	12:25245350	COSV55497479	5.00
KRAS	G12R	c.34G>C	12:25245351	COSV55497582	5.00
KRAS	G13D	c.38G>A	12:25245347	COSV55497388	25.00
MEK1 (MAP2K1)	P124L	c.371C>T	15:66436825	COSV61068422	5.00
NOTCH1	L1600P	c.4799T>C	9:136504892	COSV53025622	4.80
NRAS	Q61K	c.181C>A	1:114713909	COSV54736310	5.00
PIK3CA	H1047R	c.3140A>G	3:179234297	COSV55873195	30.00

Exome sequencing data: Download additional information on variants present in the parental cell lines

Unit Size: 1 µg

Concentration: 50 ng/µl

General Information

Storage: 4˚C

Expiry: See all product shelf life information

Cell Line Background: HCT116/RKO/SW48

Quality Control

Allelic Frequency: Droplet Digital PCR™

DNA Integrity: Agarose gel electrophoresis

DNA Quantification: Spectrophotometry (A260)