01
Where it fits and where it does not
Use these four checks before committing implementation time.
- Use it when
- Cloud and federated genomics where data access and computation must work across heterogeneous repositories.
- Limits
- The APIs solve infrastructure interoperability, not dataset semantics, consent harmonization, or analytical comparability on their own.
- Best for
- Omics and Clinical teams working across Exchange → Learn + reuse.
- Maturity
- ScalingUsable now, but adoption or tooling is still developing. Pilot the exact stack first.
02
See it in the workflow
This view shows the input, the change the standard introduces, and the resulting output.
- InputWhat starts
Omics and Clinical source data, metadata, and local mappings
- DRS + WESWhat changes
Use DRS + WES as a pinned reference architecture across Exchange → Learn + reuse
- OutputWhat becomes possible
A handoff the next system or team can validate against the same release
03
A concrete example
A research platform resolves a controlled genomic object through DRS, then runs a portable workflow through WES near the data.
Why it matters: Enables governed compute-to-data and repeatable access paths for large omics assets; feature semantics remain external.
04
What it fits with
DRS resolves logical data IDs; WES submits and monitors workflows; deployments pair the APIs with authorization and domain formats.
- Data model / schemaPhenopackets
Both support Clinical and Omics work and meet around Exchange, Learn + reuse. Compare their roles before treating them as interchangeable.
Explore relationship - Ontology / data modelDUO
Both support Omics and Clinical work and meet around Exchange, Learn + reuse. Compare their roles before treating them as interchangeable.
Explore relationship - Metadata vocabularyDPV
Both support Clinical and Omics work and meet around Exchange, Learn + reuse. Compare their roles before treating them as interchangeable.
Explore relationship - Data model / schemaGA4GH VRS
Both support Omics and Clinical work and meet around Exchange, Learn + reuse. Compare their roles before treating them as interchangeable.
Explore relationship
05
Implementation starter
Start with one bounded handoff. Pin, test, and review it before scaling.
Define one handoff, its accountable owner, and the decision DRS + WES must support.
Pin the exact version and companion artifacts: DRS 1.4 · WES independently versioned.
Map one representative input to the required reference architecture artifacts.
Test the result against the canonical source and record every exception.
Preserve the source data, mappings, and review evidence before scaling.
06
Test the main limitation
The APIs solve infrastructure interoperability, not dataset semantics, consent harmonization, or analytical comparability on their own.
Run one representative end-to-end pilot and record exactly where DRS + WES loses context, needs an extension, or depends on another standard.
Machine-readable output may still be unfit for analysis or ML.
Test the output for missing context, provenance, terminology alignment, time leakage, and the intended downstream decision. Enables governed compute-to-data and repeatable access paths for large omics assets; feature semantics remain external.
07
Official resources
Specifications, diagrams, examples, and guides from the organizations that maintain them.
GA4GH Data Repository Service
Official publisher or steward guidance for this reference architecture profile.
- Publisher
- Global Alliance for Genomics and Health