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Dictionary of Disease Ontologies (DODO)

Aim

The aim of DODO is to allow an easier way to interact and explore disease ontologies and their identifiers. The database is build on Neo4j and incorporates different ontologies with an accompagnying R package that allows easy access, exploration, and definition of disease concepts of interest. It can work as the intermediate player to facilitate access and exhaustive extraction of information from other life science databases without the need to harmonize these up front.

Installation

The data model is implemented using the Neo4j graph database which using the Cypher query language [@Neo4j2020]. One accompagnying R package DODO was developed to connect and query the resource. It provides higher level functions to query the Neo4j graph database based on the described data model (above) [@R2019].

devtools::install_github("Elysheba/DODO")

The minimal system requirements are:

  • R ≥ 3.6
  • Operating system: Linux, macOS, Windows
  • Memory ≥ 4GB RAM

The graph database has been implemented with Neo4j 3.4.9 [@Neo4j2020], the DODO R package depends on the following packages:

  • dplyr
  • tibble
  • neo2R
  • rlist
  • stringr
  • readr
  • visNetwork
  • shinythemes
  • DT
  • igraph
  • shiny

Implementation and usage

Please refer to the DODO paper for more information.

A public instance of the BED Neo4j database is provided for convenience and can be reached as follows:

library(DODO)
connect_to_dodo("https://genodesy.org/DODO/", remember=TRUE)
list_database()
shinyConcept()

Constructing a new DODO Neo4j database

To construct a DODO instance, a set of script is available to load and feed a Neo4j instance. These are not exposed directly to the user instead, these scripts are available in the build/scripts folder. The feeding of DODO is based on the parsed files of the different ontologies, a workflow on downloading and parsing for each included ontology is available through GitHub.

Resource GitHub repository
Monarch Disease Ontology (MonDO) https://github.com/Elysheba/Monarch
Experimental Factor Ontology (EFO) https://github.com/Elysheba/EFO
Orphanet https://github.com/Elysheba/Orphanet
MedGen https://github.com/Elysheba/MedGen
Medical Subject Headings (MeSH) https://github.com/Elysheba/MeSH
Human Phenotype Ontology (HPO) https://github.com/patzaw/HPO
ClinVar https://github.com/patzaw/ClinVar
Disease Ontology (DO) https://github.com/Elysheba/DO
International Classification of Diseases (ICD11) https://github.com/Elysheba/ICD11

Docker image

This docker image provides an image of the DODO (Dictionary of Disease Ontologies) graph database. It aims to provide a more complete mapping across the multitude of disease ontologies and a comprehensive way to explore and interact with disease ontologies. It includes the ontologies listed below:

  • Monarch Ontology
  • EFO
  • DO
  • ICD11
  • MedGen
  • MeSH
  • HPO
  • ClinVar

The docker image has been made available on Docker Hub: Updates will be made available on https://hub.docker.com/repository/docker/elysheba/public-dodo

Run the image

docker run -d \
--name public-dodo\
--restart always \
--publish=7476:7474 \
--publish=7689:7687 \
--env=NEO4J_dbms_memory_heap_initial__size=4G \
--env=NEO4J_dbms_memory_heap_max__size=4G \
--env=NEO4J_dbms_memory_pagecache_size=2G \
--env=NEO4J_dbms_query__cache__size=0 \
--env=NEO4J_cypher_min__replan__interval=100000000ms \
--env=NEO4J_cypher_statistics__divergence__threshold=1 \
--env=NEO4J_dbms_security_procedures_unrestricted=apoc.\\\* \
--env=NEO4J_dbms_directories_import=import \
--env NEO4J_AUTH=none\
elysheba/public-dodo:20.04.2020

dodo's People

Contributors

patzaw avatar elysheba avatar

Stargazers

 avatar  avatar Maialen avatar  avatar Jonathan Carroll avatar  avatar J. Allen Baron avatar Julien F avatar  avatar

Watchers

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dodo's Issues

ICD -> MONDO mapping

Hello! I am wondering if it's possible to use your tool to map from ICD10 -> Mondo?

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