Structural variant calling
Structural variants are large structural changes in an organism’s genome. These include copy-number variations (CNVs), large insertions or deletions (INDELs), or fusion genes formed as a result of translocation, inversion or interstitial deletion. Structural variation has been linked to a range of human diseases, including different cancer types.
What do we offer?
We assist in the detection of structural variants from different types of DNA- or RNA sequencing data. Detection and characterisation CNVs and INDELs can be done from whole-genome sequencing data. Using targeted RNA-sequencing data our pipeline detects clinical fusion genes and by further implementing predictive algorithms we can predict cancer prognosis, patient survival and treatment responses. Additionally, we can integrate publicly available drug data to screen drug candidates for potential therapeutic treatments for fusion gene inhibition.