How does hotspot screening work?

Hotspots can be SNVs or INDELs defined at a genomic, cDNA or protein level.

The SOPHiA Platform has the capability to screen for known hotspot mutations during variant analysis, where the presence or absence of known hotspots is determined (or if they cannot be determined with confidence). If hotspot screening is enabled, it is still possible to switch the Platform view to see all detected variants in all genes of the corresponding solution.