During variant analysis, the SOPHiA DDM™ Platform has the capability to directly ascertain the status of a pre-defined set of features.
This set of features can be defined both at the genomic and protein level. The monitoring of a given genomic region, such as an exon, is also possible.
If the screening analysis is enabled, a screening panel displaying the status of the pre-defined features is available on SOPHiA DDM™ Platform.
The pre-defined set is thoroughly tested before being deployed. This procedure ensures that all events are assessable from the product used. Therefore, this analysis can only be enabled by our team.