obophenotype/upheno

Name: upheno

Owner: obophenotype

Description: null

Created: 2015-08-19 23:50:22.0

Updated: 2018-01-15 15:37:45.0

Pushed: 2018-01-15 21:15:40.0

Homepage: null

Size: 20721

Language: Makefile

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README

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This repository contains common files ontologies and workflows shared between multiple phenotype ontologies.

See the wiki for additional documentation

Inter-ontology Closest Matches

See mappings/README.md for explanation of fields

Background

Many databases use their own ontology geared towards their species of interest or an area of interest. The purpose of this repository is to provide a mechanism for integrating these together into a unified phenotype ontology. We do this primarily through OWL Axiomatization and OWL Reasoning.

This approach takes advantages of the fact that phenotype ontologies typically follow a compositional structure. If each contributing ontology makes the semantics of this composition transparent through OWL Axioms then a reasoner can piece the ontologies together and find the overarching classification.

For example, if a phenotype ontology A contains a class for limb size, and also provides an OWL axiom that maps onto a decomposed form, for example:

And if phenotype ontology B has a class short forelimb, with axiom:

Then a reasoner can infer that B:short forelimb is a subclass of A:limb size

The OWL Axioms we use follow a design pattern called EQ or Entity-Quality descriptions.

Furthermore, if a database C provides a row for a genotype described compositionally, the placement of these phenotypes can also be inferred.

For background on the original formulation, see:

C J Mungall, Georgios Gkoutos, Cynthia Smith, Melissa Haendel, Suzanna Lewis, Michael Ashburner (2010) Integrating phenotype ontologies across multiple species Genome Biology 11 (1)

Exploring uPheno

The Monarch website uses uPheno to group data from multiple species. See for example: https://monarchinitiative.org/phenotype/MP:0003631

You can also query this using Monarch SciGraph services: https://scigraph-ontology.monarchinitiative.org/scigraph/docs/

To understand the mechanics of how uPheno works, we recommend opening the OWL in Protege and exploring with a fast reasoner such as Elk running

The remainder of these docs assumes some familiarity with Protege/OWL

We provide various modules:

Contributing Ontologies

* – this ontology provides their own OWL axiomatization ** – separately generated ontology

External Imports Modules

The OWL axiomatization depends on a number of external ontologies, including

Many of these are large, so we create import modules in the upheno ontology purl space

See the imports directory

PURLs

This ontology has the OBO PURL upheno

A redirect at obolibrary.org maps

History

Previously we had various things on:

This was split across multiple github repos


This work is supported by the National Institutes of Health's National Center for Advancing Translational Sciences, Grant Number U24TR002306. This work is solely the responsibility of the creators and does not necessarily represent the official views of the National Institutes of Health.