201601 FHIR Genomics

Sequence resource

Submitting WG/Project/Implementer Group

CG

Justification

The Sequence resource is a core resource in FHIR Genomics. It is used to represent complex genetics data.

Proposed Track Lead

Gil Alterovitz

Expected participants

The number of the participants may be 20-50.

Roles

FHIR Client

Support the sending of the Sequence resource operations: create, history, read, search and update.

FHIR Server

Support the receiving and processing of the Patient resource operations: create, history, read, search and update.

Steps

Scenario Step 1 Register a new sequence

Action: FHIR Client. Create a sequence instance to represent genetics data (DNA variant, RNA sequence, structural variant, etc).

Precondition: This sequence instance does not exist in service prior to action.

Success Criteria: Sequence created correctly on server and in the desired format.

Bonus point:

Example for genetics data representation:

• somatic variant in lung cancer
• RNA variant
• structural variant