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AIExome® Human Exome Panel V3-Tumor

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Overview
Performance
Ordering Info
Resources

Overview

AIExome® Human Exome Panel V3 – Tumor is a version of AIExome® V3 specifically designed to detect tumor related mutations. In addition to the superior coverage of CDS region as AIExome® V3, AIExome® V3 – Tumor also covers important fusions, MSIs, HLA regions and tumor related genes.


AIExome-Human-Exome-Panel-V3

Product Parameters

Panel Number
T600V1ST
Technical Platform
TargetSeq® Hybridization Capture Sequencing
Coverage Size
34.9 Mb
Reference Database
RefSeq、MANE、CCDS etc.
Reference Genome
GRCh38 (hg38)
Coverage
CDS, HLA haplotypes, 641 tumor-related genes, 38 hotspot intron fusion regions, 15 MSIs
Storage
<-70℃
Sequence Platform
Illumina / MGI
Recommend Sequencing Read Length
PE150
Recommend Sequencing Data Size and Depth
20Gb / 200X


Versions

The AIExome® Human Exome Panel V3 product is available in 3 versions:



CDS RegionInternal Reference QC SNPsClinVarMitochondriaSNP BackboneFusionHLA641 Tumor-related Hotspot Genes
AIExome® V3






AIExome® V3 Inherit



AIExome® V3 Tomur




Advantages

  • Covering over 99.9% of the CDS regions in major genetic databases.

  • MSI and TMB analysis enabled.

  • Increased probe density in regions of 641 tumor-related genes (especially mutation hotspots) to avoid missing detection of these key genes.

  • Upgraded TargetSeq One® v2.0 kits and workflow for easier handling and more robust experiment.Compatible with automated workflow to reduce manual operation and human errors.

  • Stable data reproducibility across different NGS platforms, with excellent data performance and outstanding cost-efficiency.



Performance

Accurate Mutation Detection

Test results of AIExome® V3 – Tumor (Illumina NovaSeq 6000, PE150, ~500X) using gDNA reference standard (Gene-Well, cat. GW-OGTM800) showed accurate and reproducible mutation calling of low frequency mutations.


GeneVariantExpected allelic frequency (%)Reported allelic frequency (%)
Sample 1Sample 2
EGFR
L858R
1.0%
0.5%
0.5%
KRAS
A146T
1.0%
0.8%
0.9%
NRAS
Q61K
1.0%
1.0%
0.4%
EGFR
T790M
2.0%
1.6%
1.5%
EGFR
ΔE746_A750
2.0%
0.9%
1.6%
FLT3
ΔI836
2.0%
1.9%
1.6%
KIT
D816V
2.0%
2.1%
2.5%
KRAS
G12D
2.0%
1.9%
1.9%
EGFR
V769_D770insASV
3.0%
2.1%
1.6%
EGFR
G719S
4.0%
3.3%
2.9%
KRAS
G13D
4.0%
3.2%
3.2%
BRAF
V600E
7.0%
5.2%
4.8%
PIK3CA
H1047R
7.0%
6.7%
7.5%


Accurate Mutation Detection of FFPE

Test results of AIExome® V3 – Tumor (Illumina NovaSeq 6000, PE150, ~500X) using FFPE reference standard (Gene-Well, cat. GW-OGSM003) showed accurate and reproducible mutation calling of low frequency mutations.


GeneVariantExpected allelic frequency (%)Reported allelic frequency (%)
Sample 1Sample 2
EGFR
L858R
5.0%
4.4%
5.8%
EGFR
T790M
5.0%
4.2%
3.5%
EGFR
ΔE746_A750
5.0%
2.7%
3.0%
KRAS
A146T
5.0%
6.0%
9.7%
KRAS
G12D
5.0%
4.9%
4.8%
KRAS
G13D
5.0%
2.6%
3.2%
KRAS
Q61K
5.0%
5.4%
4.6%
PIK3CA
E545K
5.0%
6.7%
6.0%


Higher Depth of Tumor Hotspot Regions

Probe density in regions of 641 tumor-related genes are increased to ensure the mutation calling in tumor hotspot regions. Test results of AIExome® V3 – Tumor (Illumina NovaSeq 6000, PE150, ~500X) using gDNA reference standard (Gene-Well, cat. GW-OGTM800) showed higher sequencing depth of important hotspot regions.


higher-depth-of-tumor-hotspot-regions.png

Learn more about AIExome® Human Exome Panel V3-Tumor

Ordering Info

AIExome® Human Exome Panel V3 - Tumor
Product NamePanel NumberSetCat. No
AIExome® Human Exome Panel V3 - TumorT600V1ST16 rxnPT1009181
96 rxnPT1009182


Resources

Demo DataSet
  • AIExome® Human Exome Panel V3 - Tumor (T600V1ST) demo data
    AIExome® Human Exome Panel V3 - Tumor (T600V1ST) demo data
bed File
  • AIExome® Human Exome Panel V3 - Tumor (T600V1ST) bed file
    AIExome® Human Exome Panel V3 - Tumor (T600V1ST) bed file