Clinical whole genome sequencing analysis and interpretation

We have particular expertise in WGS cancer analysis and interpretation for clinical and academic purposes based on years of experience of reading whole cancer genomes. We work collaboratively with a very wide audience, ranging from clinical trials, to specialist cohorts and offer an n-of-1 service for rare cases and end-stage metastatic disease.  We are working closely with Genomics England in order to transfer some of our skills and tools into their environment.

Clinical algorithm development

We enjoy developing algorithms for clinical purposes. As an example, we developed HRDetect an algorithm for detecting tumour samples with BRCA1/BRCA2 deficiency. Since its inception, it has been patented, applied in a population-based clinical study in Sweden to demonstrate its prognostic performance, and applied in a proof-of-principle clinical trial to demonstrate that it correlates with sensitivity to PARP-inhibition therapy.

Early detection

We recently embarked on exploring how mutagenesis could be used in the setting of early detection of cancer as well as for early detection of aggressive cancers in a patient’s diagnostic journey.