GALEAS™ Tumor

GALEAS Tumor confidently identified somatic variants in a colorectal cancer (CRC) cohort with 100% recall and precision (Figure 1). The efficacy of the GALEAS Tumor workflow was assessed using reference material from FFPE containing 23 SNVs and INDELs that had previously been confirmed by ddPCR.

A strong correlation between NGS and ddPCR- determined VAFs was observed with a mean depth of 500x (R2 = 0.99) (Figure 2).

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

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).

³ https://doi.org/10.1002/ijc.32002 Endris V, Buchhalter I, Allgäuer M et al. Measurement of tumor mutational burden (TMB) in routine molecular diagnostics: In-silico and real-life analysis of three larger gene panels. Int J Cancer 2019; 144: 2303– 2312.
⁴ https://www.annalsofoncology.org/article/S0923-7534(19)31240-2/fulltext

Access to the cloud-based GALEAS Analysis Software delivers a comprehensive variant calling pipeline

Cutting-edge bioinformatics pipelines are included with GALEAS Tumor. This cloud-based software solution has been specifically tailored and optimized for secondary calling, guaranteeing a robust and accurate analysis of somatic variants. This is critical to ensuring reliable downstream interpretation analysis and providing clinicians with reliable data to help them make informed decisions regarding patient care and treatment strategies.

In line with the dynamic field of immuno-oncology, our software provides invaluable insights into tumor biology and profiling incorporating essential biomarkers such as TMB and MSI, which are crucial for tumor characterization and treatment decisions. These biomarkers enable personalized medicine approaches and informed clinical decision support.

Experience the analytical power of GALEAS Analysis Software for variant calling to optimise genomic data interpretation to new levels of excellence.