Unveiling copy number insights:

GALEAS Tumor delivers precision CNV detection

The design of GALEAS Tumor incorporates a copy number backbone targeting informative genome wide SNPs enabling enhanced CNV calling to a >1 Mb resolution.

Strong correlation of GALEAS Tumor SNP backbone data with shallow whole genome sequencing (sWGS) demonstrates its efficacy as a reliable tool for comprehensive CNV analysis in clinical genomic profiling (Figure 3). ​

Samples with varying copy numbers were assessed using GALEAS Tumor. The three samples assessed had known copy number variations in EGFR and MET that consist of 3, 6 and 12 copies. They were quantitatively confirmed by GALEAS Tumor, leveraging the genome-wide SNP backbone design (Figure 4).

Figure 4: Validating gene level CNV calls with a CNV Lung and Brain Mix reference standard at (A) 12, (B) 6, and (C) 3 copies. Genes highlighted here are EGFR and MET.

Empowering access to immunotherapy treatment:

GALEAS Tumor delivers a combined tumor genomic instability measurement for TMB and MSI

GALEAS Tumor demonstrates excellent utility as a solution for the determination of MSI scoring and TMB status, offering a clinically viable solution to help match patients with appropriate immunotherapies. ​

​GALEAS Tumor correctly identified 100% of MSS (microsatellite stable) and normal samples, and 23/24 MSI-H (microsatellite instability-high) CRC samples evaluated (Figure 5). ​

TMB is a key immuno-oncology biomarker across multiple cancer types and has been shown to correlate strongly with MSI status in colorectal cancer. 3, 4 A strong correlation was observed between the GALEAS Tumor derived TMB scores for a CRC cohort (Median TMB 28.24, log2 TMB 1.45) and corresponding sample MSI status (Figure 6).

Figure 5: Comparisons of GALEAS Tumor MSI scores with known MSI status from CRC primary tumor samples (MSS-High), healthy individuals (MSS) and reference standards.

Figure 6: GALEAS Tumor TMB scores across 50 CRC samples compared with MSI