Interpretation Services
Interpretation Services are applications or algorithms that can be applied to cases in the Genomics England Interpretation Platform that facilitate users in finding the molecular basis to their patient's conditions.
For GMS there are two rare disease interpretation services: genomics_england_tiering
and exomiser
and a single
cancer interpretation service genomics_england_tiering
.
However, the platform is designed in such away that should it be necessary for a new interpretation service to be added to cases it can be.
Each Interpretation Service produces an output in the format of an Interpreted Genome
. See here
for further info.
The following section details descriptions of the data produced by each of these Interpretation Services
Note
Results of Interpretation Services will often require additional further additional annotation from external sources to enable accurate interpretation. It is not the function of the CIP-API to provide this annotation. The Decision Support Systems and Cellbase annotations in the Interpretation browser are some examples of the additional annotations that may be required