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.

Tag: Tertiary Analyses