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Update README_DO_Files
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lschriml committed May 31, 2018
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Expand Up @@ -3,11 +3,23 @@ DO Ontology files in the DiseaseOntology/HumanDiseaseOntology/src/ontology direc
DO production work, conducted by the University of Maryland team, is done on the
doid-edit.owl file.

The DO team will update the other files in this directly on a bi-weekly basis.
This is done by running DO's Makefile.
This creates several OWL and OBO version of DO.
The DO's primary representation of a disease classification (HumanDO.obo) is represented as a single is_a hierarchy,
based on disease etiology.
The DO team will update the other files in this directly on a bi-weekly basis
as part of our DO release. This creates several OWL and OBO version of DO.

The DO project produces BOTH our traditional single parentage ontology (based on disease etiology) as well as a
logically defined multiple parentage ontology (since 2015), which builds on DO's disease etiology classification providing multiple parentage
defined by the anatomical location of the disease and cell type of origin through extensive logical definitions based on OBO Foundry
ontologies.

DO Single Parentage ontology.
The DO's disease classification is represented as both a single is_a hierarchy (doid-non-classified.obo).
This file is equivalent to DO's HumanDO.obo file. We will continue to produce both files as the HumanDO naming
schema was utilized and published for the first decade of the project.

Multi-parent Disease Classification in DO
DO's logically inferred multiple parentage classification is produced as our doid.owl file.
This file integrates logical definitions defining the anatomical location or cell or origin of a disease.


This README is to document and describe what is found in each file/set of files.

Expand All @@ -19,18 +31,24 @@ doid-non-classified.obo and doid-non-classified.owl files produced in this GitHu
DO Production Ontology Files:
doid-edit.owl : DO team editing environment
-- this file is ONLY edited by the DO team.
-- this file currently includes logical definitions to ontology files in the IMPORTS directory.
-- DO includes logical definition to: Cell Ontology (CL), UBERON and NCBITaxon
-- this file includes logical definitions to ontology files in the IMPORTS directory.
-- DO includes logical definition to:
Anatomy: UBERON; Cell type of origin: Cell Ontology (CL); Taxonomy: NCBITaxon;
Symptoms: Symptom Ontology: SYMP; Phenotype: Human Phenotype Ontology (HPO);
Transmission Process: Pathogen Transmission Methods (TRANS);
Sequence features: Sequence Ontology (SO); RO (Relations Ontology)

And are next adding:
FoodON: allergic triggers; CHEBI: chemical triggers/environmental triggers/drivers;
BRENDA tissue/ enzyme source (BTO): allergic triggers

DO weekly data releases in GitHub: produces a suite of files.

DO content has been enhanced through the inclusion of logical definitions.
The DO imports other OBO Foundry ontologies to create the logical definitions, including:
NCBI Taxon, Cell Ontology, Uberon, HPO (Human Phenotype Ontology) and the RO (Relations Ontology).

DO data releases in GitHub: produces a suite of files.


(contain inferred links)
doid.obo : --Disease Ontology, OBO format. This file omits the equivalent axioms
doid.owl : --Disease Ontology, OWL format. This file contains DO's is_a asserted hierarchy plus equivalent axioms to other OBO Foundry ontologies.
doid.owl : --Disease Ontology, OWL format. This reasoned OWL file contains DO's is_a asserted hierarchy plus
equivalent axioms to other OBO Foundry ontologies.

<u>DO merged files</u>: created for the Alliance of Genome Resources (AGR) that includes OMIM to DO associations as xrefs plus defined relationships between OMIM susceptibility IDs and DO terms.

Expand All @@ -45,15 +63,7 @@ NCBI Taxon, Cell Ontology, Uberon, HPO (Human Phenotype Ontology) and the RO (Re


DO files in the OBO Foundry:
DO's OBO Foundry release files:
OBO File:
The DO provides our single is_a hierarchy as a primary release file to the OBO Foundry.
This file was previously named "HumanDO.obo", in the OBO Foundry this file is called doid.obo
which links to the doid-non-classified.obo file in this GitHub repository.
OWL File:
The DO provides the reasoned OWL file which includes all of the inferred links. This is eqivalent to the DO's GitHub doid.owl file.



OBO Foundry products:
- doid.owl: https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/master/src/ontology/doid.owl
- doid.obo: https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/master/src/ontology/doid.obo
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