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
Full details of the report models for Interpretation Requests.
Interpretation Requests for rare disease are in JSON format can be found under the file path:
In this location, Interpretation Requests, are categorised by genome build, Main Programme release date, and labelled by family ID. For releases after Main Programme V6, we expect to include a link to the Interpretation Request files to the relevant participant in the
rare_disease_analysis LabKey table.