- It detects point mutations (SNVs), small insertions and deletions (INDELs), structural variants (SVs), copy number variants (CNVs) throughout the genome, microsatellite instability (MSI) and pharmacogenetics variants (PGx).
- UMI molecular barcoding to increase the sensitivity of the bioinformatics analysis.
- Included analysis software: Data Genomics.
- Coverage: >99% of bases covered at 200X.
- Uniformity: 98% of bases covered at >20% of mean coverage.
- Sensitivity: >99%.
- Specificity: >99%.
- Limit of detection (LOD) for SNVs, INDELs, and structural variants is 5%.
- Limit of detection for CNVs is 2.4 total copies for copy number gains, which means 4 copies at 30% of tumor burden, and 1.8 total copies for copy number losses, which is 1 copy at 20% of tumor burden.
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