Bio-metadata Query Support

Future Beacon API versions will support querying for additional, non-sequence related data types.

Proposed basic objects and their relationships, derived from the GA4GH Metadata Schema with some placeholder attributes. Such a model can serve as the basis for consistently scoped Beacon queries, beyond variant detection.

One of the first implementations will be towards ontology term based phenotype and disease classifications, based on concepts from the Biocharacteristic and OntologyTerm objects from the GA4GH metadata model and its SchemaBlocks descendant.

Development of these query extensions will require a basic, but consistent, object model for scoping such queries.

Ontology term based query example in cancer

In a typical cancer resource scenario, diagnostic codes would be associated with a biosample from which the variants were generated. Disease descriptions and coding could there be annotated in a biosamples database collection, as part of a biocharacteristics array of disease or phenotype objects:

"biocharacteristics" : [
    "description" : "cervix squamous carcinoma [cell line C-4-I]",
    "type" : {
      "id" : "ncit:C27676",
      "label" : "Human papillomavirus-related cervical squamous cell carcinoma"

… where the type attribute represents the default annotation for ontology terms (the use of an “id” and a “label” is SOP for such use cases).

The simplest query for an exact match for this specific diagnosis could be formulated as:

MongoDB example (i.e. the backend query)
db.biosamples.find( { "" : "ncit:C27676" } )
(Generic) HTTP example

@mbaudis 2018-10-18
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