Interpretation request (rare disease)¶

Following rare disease tiering, an Interpretation Request is sent from Genomics England to the relevant Clinical Interpretation Partners in JSON format. The Interpretation Request contains all of the information needed to display and clinically annotate the case.

The following information can be found within the Interpretation Request JSON file:

Family pedigree and other family history
Analysis panels and versions
Specific disorder
Tiered variants and tiering version
HPO terms
Workspace (NHS GMC or LDP site code)
Gene panel coverage
Disease penetrance
Variant classification

Location¶

Interpretation Requests for rare disease are in JSON format can be found under the file path: /gel_data_resources/main_programme/interpretation_request_rd

In this location, Interpretation Requests are categorised by genome build, 100kGP release date, and labelled by family ID.