Tru-Q 1 (5% Tier) Reference Standard

The Tru-Q DNA Reference Standards are a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect somatic mutations.  The specifications of some variants within the Tru-Q product line have been changed for batches manufactured after the 31st March 2021. For more information, please click here.

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 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.

Gene Variant (AA) CDS mutation GRCh38 co-ordinates Legacy ID Genomic mutation ID Expected allelic frequency (%) NGS allelic frequency (%) NGS read depth
BRAF V600E c.1799T>A 7:140753336 COSM476 COSV56056643 7.70% 10.41% 836
BRAF V600K c.1798_1799delinsAA 7:140753335 COSM473 COSV56057713 3.80% b b
EGFR G719S c.2155G>A 7:55174014 COSM6252 COSV51767289 16.70% 16.91% 698
EGFR T790M c.2369C>T 7:55181378 COSM6240 COSV51765492 4.20% 3.83% 1697
FLT3 ΔI836 c.2508_2510del 13:28018497 COSM797 COSV54043228 5.00% 5.08% 965
IDH1 R132C c.394C>T 2:208248389 COSM28747 COSV61615256 5.00% 5.33% 544
JAK2 V617F c.1849G>T 9:5073770 COSM12600 COSV67569051 5.00% 4.59% 1306
KRAS G12A c.35G>C 12:25245350 COSM522 COSV55497479 5.00% 4.09% 514
KRAS G12R c.34G>C 12:25245351 COSM518 COSV55497582 5.00% 6.03% 514
KRAS G13D c.38G>A 12:25245347 COSM532 COSV55497388 25.00% 25.05% 519
MEK1(MAP2K1) P124L c.371C>T 15:66436825 COSM1315861 COSV61068422 5.00% 4.35% 1104
NOTCH1 L1600P c.4799T>C 9:136504892 COSM12771 COSV53025622 4.80% 3.05% 722
NRAS Q61K c.181C>A 1:114713909 COSM580 COSV54736310 5.00% 4.33% 832
PIK3CA H1047R c.3140A>G 3:179234297 COSM775 COSV55873195 30.00% 27.26% 998

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

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™

DNA Integrity: Agarose gel electrophoresis

DNA Quantification: Spectrophotometry (A260)