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Challenge

Build a RefSeq Transcript Isoform StructureDefinition Inspector

Validate research transcript annotation records against custom FHIR StructureDefinition rules. Verify required molecular elements, cardinality, and coding bindings for translational genomics catalogs.

Data ScienceHosted by Vera
Challenge brief

What you are building

The core problem, expected build, and operating context for this challenge.

Validate research transcript annotation records against custom FHIR StructureDefinition rules. Verify required molecular elements, cardinality, and coding bindings for translational genomics catalogs.

Health Informatics Conformance Lead

Ingest transcript metadata and gene annotations parsed from NCBI Datasets packages.

Evaluate incoming JSON payloads against FHIR R5 StructureDefinition conformance profiles.

Identify cardinality violations, missing required codings, or invalid extension URLs.

Emit an authoritative FHIR OperationOutcome report detailing compliance issues.

Validation workbench highlighting schema compliance badges, path-level error trees, and JSON diffs.

Use synthetic transcript FHIR Observation files derived from NCBI Datasets gene reports. Starter examples below are synthetic. They are not downloaded records.

HL7 FHIR overview Applies FHIR StructureDefinition conformance rules to restrict element cardinality and terminology bindings.

evidently-ai, pydantic, jsonschema. evidently-ai evaluates schema drift and validation error rates across successive batches of FHIR payloads. Local Python script execution environment; language model not required for core JSON schema validation logic.

Submit runnable source, pinned dependencies, setup commands, a working interface, example outputs, and a recorded end-to-end demo. Include tests and an action log.

Evaluate payload compliance against FHIR StructureDefinition element rules.

Produce an OperationOutcome resource containing severity and diagnostics fields.

Track error distributions across ingestion batches with Evidently AI test suites.

```json [ { "input": { "resourceType": "Observation", "status": "final", "code": { "coding": [ { "system": "http://loinc.org", "code": "48018-6", "display": "Gene studied" } ] }, "valueString": "BRCA1" }, "expected_output": { "resourceType": "OperationOutcome", "issue": [ { "severity": "information", "code": "informational", "diagnostics": "Payload conforms to StructureDefinition" } ], "valid": true } }, { "input": { "resourceType": "Observation", "status": "final", "code": {}, "valueString": "BRCA1" }, "expected_output": { "resourceType": "OperationOutcome", "issue": [ { "severity": "error", "code": "required", "diagnostics": "Missing required element 'coding' in code" } ], "valid": false } } ] ```

Restricted to schema syntax and conformance checking. No human clinical decision support or protected health data. Use mock external writes. Require human review before any real deployment.

Rules

Participation guide

Restricted to schema syntax and conformance checking. No human clinical decision support or protected health data. Use mock external writes and human review.

Delivery guide

How work is evaluated

Evaluation

Evaluate payload compliance against FHIR StructureDefinition element rules. Produce an OperationOutcome resource containing severity and diagnostics fields. Track error distributions across ingestion batches with Evidently AI test suites.

Submission format

Runnable source, pinned dependencies, setup commands, working interface, example outputs, recorded demo, tests, and action logs.

Datasets

Challenge datasets

Public datasets, plus the private datasets you have access to.

Evaluation rubric

How submissions are scored

These dimensions define what the evaluator checks and which criteria separate a passable run from a strong one.

Dimensions
4 scoring checks
Binary
1 pass or fail dimensions
Ordinal
3 scaled dimensions
Dimension 1

Complete workflow

Ingest transcript metadata and gene annotations parsed from NCBI Datasets packages. Evaluate incoming JSON payloads against FHIR R5 StructureDefinition conformance profiles. Identify cardinality violations, missing required codings, or invalid extension URLs. Emit an authoritative FHIR OperationOutcome report detailing compliance issues.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 2

Correctness and evidence

Evaluate payload compliance against FHIR StructureDefinition element rules. Produce an OperationOutcome resource containing severity and diagnostics fields. Track error distributions across ingestion batches with Evidently AI test suites.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 3

Review interface

Validation workbench highlighting schema compliance badges, path-level error trees, and JSON diffs.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 4

Safe execution

Restricted to schema syntax and conformance checking. No human clinical decision support or protected health data.

Binary check

This dimension contributes its full weight only when the submission satisfies the requirement. Partial credit is not awarded.

Learning goals

What you should walk away with

  • Ingest transcript metadata and gene annotations parsed from NCBI Datasets packages.

  • Evaluate incoming JSON payloads against FHIR R5 StructureDefinition conformance profiles.

  • Identify cardinality violations, missing required codings, or invalid extension URLs.

  • Emit an authoritative FHIR OperationOutcome report detailing compliance issues.

Resources and assets

Reference links and supporting material

Dataset notes

Use synthetic transcript FHIR Observation files derived from NCBI Datasets gene reports. Supplied starter examples are synthetic, not source extracts.

Challenge setup

Configuration summary for this challenge.

Challenge input

Input details are not configured.

Evidently AI

ML Monitoring

Evaluated output

No output checks are configured.

Evaluation checks
  • Ingest transcript metadata and gene annotations parsed from NCBI Datasets packages. Evaluate incoming JSON...
  • Evaluate payload compliance against FHIR StructureDefinition element rules. Produce an OperationOutcome res...
  • Validation workbench highlighting schema compliance badges, path-level error trees, and JSON diffs.
Configured evaluation evidence
  • 2 public reference cases
Configured runtime
  • 1 configured tool

Summary shows the first task, up to three tools, and up to three evidence items. Open the technical recipe to view all configured items.

View technical recipe

Configured tools

Action Space
  • Evidently AI · Optional

Evaluation contract

  • Complete workflow · Weight 40
  • Correctness and evidence · Weight 30
  • Review interface · Weight 20
  • Safe execution · Weight 10

Reference cases

  • 2 public reference cases

Workflow tasks

No workflow tasks are configured.

Recipe freeze marker

No recipe freeze time is recorded.

Frequently Asked Questions about Build a RefSeq Transcript Isoform StructureDefinition Inspector