Somatic Genetic Cancer Aanalyses Services
Genetic cancer analyses are particularly challenging due to the huge number of de novo variants and the need to combine DNA and RNA data in some cases. This requires a unique set of interpretation tools and specifically tuned bioinformatics.
SeqOne provides a unified view of all variants associated with the set of actionable “hotspots” specific to each cancer type. This hotspot view can merge DNA and RNA-seq results into a single unified view. A more detailed view permits comprehensive exploration of the genomic sample to address more complex cases.
We created a set of bioinformatic tools that are optimized for low allele frequency variants, support for molecular barcoding (UMI’s) and can isolate difficult-to-identify variants and biomarkers such as microsatellite instability (MSI), somatic CNV’s, gene fusions and Tumor Mutational Burden (TMB). The tools also support the comparison between healthy and tumoral samples.