SV Analysis
Somatic Variant Analysis
-Detecting somatic single-nucleotide variants (SNVs) and small insertions/deletions (indels) in tumor samples
-Estimating variant allele frequency (VAF) to resolve clonal architecture and intra-tumor heterogeneity
-Functionally annotating variants with COSMIC, TCGA, OncoKB, and other curated oncology databases
-Calculating tumor mutational burden (TMB) and assessing microsatellite instability (MSI) status
-Integrating RNA-Seq data (when available) for expression profiling of mutated genes
-Visualizing mutation distributions at the pathway level within oncogenic signaling networks