Oncology

Key advantages

• Whole genome, exome, and transcriptome sequencing for tumor characterization

• Detection of somatic and germline mutations, CNVs, fusions, and structural variants

• Supports both solid and hematological malignancies

• Actionable insights for therapy selection, prognosis, and recurrence risk

• Matched tumor/normal analysis to distinguish germline vs. somatic alterations

• Compatible with FFPE, fresh tissue, blood, or liquid biopsies

• Enables immune profiling and tumor microenvironment analysis

• Integrates with pharmacogenomic and biomarker data for precision oncology

• Comprehensive Inherited Risk Assessment to Identify germline variants associated with increased risk for a wide spectrum of hereditary cancers (e.g., breast, ovarian, colorectal, prostate, pancreatic, etc.).

Technical specifications

• Sample type: FFPE tissue, fresh frozen tissue, blood, plasma

• Sequencing platforms: Illumina NovaSeq, MGI DNBSEQ, Oxford Nanopore, PacBio

• Coverage: Whole genome (30x), exome (100x+), transcriptome (100M+ reads)

• Bioinformatics pipeline: somatic variant calling, fusion detection, CNV analysis, MSI/TMB scoring

• Output files: FASTQ, VCF, BAM, annotated reports (clinical and research-grade)

• Variant databases: ClinVar

• Clinical reporting available upon request, with expert interpretation