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Change ontology term identifier (#694)
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* Change ontology term identifier
Ontology terms had an ambigious 'id' field and description. This PR renames the field to term_id to remove the confusion over the role of the field, as well as improves the comment for its proper use. A field 'term_uri' has been added that allows one to specify the full URI for a term if it is available.
Change ontologies appendix documentation to reflect change
Slight formatting and wording adjustments of appendix doc
Change CURIE to URI
Fix casing

* post Vancouver changes

modified after Vancouver meeting to use CURIE throughout, remove
termURI and remove sourceName and source version.

* fixed termId

* doc

* Fix casing

* Update process schemas
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david4096 authored Feb 2, 2017
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98 changes: 27 additions & 71 deletions doc/source/appendix/ontologies.rst
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Expand Up @@ -38,15 +38,11 @@ What is the minimum attribute requirement for OntologyTerm in GA4GH?

Conceptually (and consistent with the metadata branch)

:ontologyId:
required and implemented as URI
we assume this resolves to a meaningful document, e.g. http://purl.obolibrary.org/obo/SO_0000147
:termId:
required and implemented as CURIE
we assume this resolves to a meaningful document, e.g. http://purl.obolibrary.org/obo/SO_0000147, using a prefix mapper, e.g. SO: <=> http://purl.obolibrary.org/obo/SO_
:term:
preferred but not required (e.g. ‘exon’); corresponds to class label
:sourceName:
not required since should be resolved from prefix etc., but supporting/fall-back in case of non-standard/deprecated/entropic annotations; possible use for CURIEs in compact sequence ontology implementations (e.g. SO:0000147)
:sourceVersion:
not required but good practice; if no explicit versioning, ISO8601 formatted data of retrieval should be used


Ontology Selection and Overlap
Expand Down Expand Up @@ -84,122 +80,82 @@ Examples
Genotypic sex
=============

:ontologyId:
"http://purl.obolibrary.org/obo/PATO_0020001",
:termId:
"PATO:0020001",
:term:
"male genotypic sex" ,
:sourceName:
"PATO Phenotypic quality",



Sequence Ontology
=================

:ontologyId:
"http://purl.obolibrary.org/obo/SO_0001583",
:termId:
"SO:0001583",
:term:
"missense_variant",
:sourceName:
"Sequence Ontology",
:sourceVersion:
"release_2.5.3"



Human Phenotype ontology
========================

:ontologyId:
"http://purl.obolibrary.org/obo/HP_0000819",
:termId:
"HP:0000819",
:term:
"Diabetes mellitus",
:sourceName:
"human_phenotype Ontology",
:sourceVersion:
"release_Jan2016*"


----

:ontologyId:
"http://www.ebi.ac.uk/efo/HP_0012059",
:termId:
"HP:0012059",
:term:
"Lentigo maligna melanoma",
:sourceName:
"human_phenotype_ontology",
:sourceVersion:
"2016-01-14”



Body part (Uberon)
==================

:ontologyId:
"http://www.ebi.ac.uk/efo/UBERON_0003403",
:termId:
"UBERON:0003403",
:term:
"skin of forearm",
:sourceName:
"uberon",
:sourceVersion:
"2015-11-23”


Human disease ontology
======================

:ontologyId:
"http://purl.obolibrary.org/obo/DOID_9351",
:termId:
"DOID:9351",
:term:
"diabetes mellitus",
:sourceName:
"disease_ontology",
:sourceVersion:
"2016-01-25"


Experimental factor ontology
============================

:ontologyId:
"http://purl.obolibrary.org/obo/EFO_0000400",
:termId:
"EFO:0000400",
:term:
"diabetes mellitus",
:sourceName:
"experimental_factor_ontology",
:sourceVersion:
"V2.68”


----

:ontologyId:
"http://www.ebi.ac.uk/efo/EFO_0004422",
:termId:
"EFO:0004422",
:term:
"exome",
:sourceName:
"Experimental Factor Ontology",
:sourceVersion:
"release_2.68"


SNOMEDCT representation of ICD-O 3 Cancer Histology
===================================================

:ontologyId:
"http://purl.bioontology.org/ontology/SNMI/M-94703“
:term:
"Medulloblastoma, NOS”
:sourceName:
"SNOMED CT model component”
:sourceVersion:
"2016-01-28"


Unit Ontology
=============

:ontologyId:
"http://purl.obolibrary.org/obo/UO_0000016",
:termId:
"UO:0000016",
:term:
"millimetre",
:sourceName:
"Unit Ontology",
:sourceVersion:
"2015-12-17"

32 changes: 9 additions & 23 deletions python/ga4gh/schemas/ga4gh/metadata_pb2.py

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18 changes: 4 additions & 14 deletions src/main/proto/ga4gh/metadata.proto
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Expand Up @@ -7,25 +7,15 @@ import "google/protobuf/struct.proto";
// An ontology term describing an attribute. (e.g. the phenotype attribute
// 'polydactyly' from HPO)
message OntologyTerm {
// Ontology source identifier - the identifier, a CURIE (preferred) or PURL
// for an ontology source e.g. http://purl.obolibrary.org/obo/hp.obo It
// Ontology term identifier - the CURIE for an ontology term. It
// differs from the standard GA4GH schema's :ref:`id <apidesign_object_ids>`
// in that it is a URI pointing to an information resource outside of the
// in that it is a CURIE pointing to an information resource outside of the
// scope of the schema or its resource implementation.
string id = 1;
string term_id = 1;

// Ontology term - the representation the id is pointing to.
// Ontology term - the label of the ontology term the termId is pointing to.
string term = 2;

// Ontology source name - the name of ontology from which the term is obtained
// e.g. 'Human Phenotype Ontology'
string source_name = 3;

// Ontology source version - the version of the ontology from which the
// OntologyTerm is obtained; e.g. 2.6.1. There is no standard for ontology
// versioning and some frequently released ontologies may use a datestamp, or
// build number.
string source_version = 4;
}

// A Dataset is a collection of related data of multiple types.
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