Datasets

Human Chromosome Ontology (HCO)

The Human Chromosome Ontology (HCO) provides simple, stable, and version-aware URIs for semantically identifying human chromosomes in different human reference genome assemblies. HCO enables RDF datasets to describe chromosome-level genomic locations consistently across reference genome versions.

Dataset specifications

Tags
Ontology/Terminology/Nomenclature
Provenance Original
Registration Submitted
Data provider
  • Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics, National Institute of Genetics
Creator
  • Toshiaki KatayamaNational Institute of Genetics
Issued 2020-07-15
Licenses
  • Attribution 4.0 International (CC BY 4.0) Database Center for Life Science
Version 2020-07-15
Download /website/download/#hco
SPARQL Endpoint https://rdfportal.org/primary/sparql

Dataset statistics

Triples
25646
Subjects
7861
Properties
18
Objects
9536
Classes
896

SPARQL example queries

Example 1

Run on Endpoint
# Retrieve a list of human chromosome classes included in HCO.

PREFIX hco:   <http://identifiers.org/hco/>
PREFIX rdfs:  <http://www.w3.org/2000/01/rdf-schema#>

SELECT ?chromosome_class ?label
FROM <http://rdfportal.org/dataset/hco>
WHERE {
  ?chromosome_class rdfs:subClassOf hco:HumanChromosome ;
                    rdfs:label ?label .
}
ORDER BY ?chromosome_class

Example 2

Run on Endpoint
# Retrieve chromosome instances and their lengths in GRCh38.

PREFIX hco:   <http://identifiers.org/hco/>
PREFIX rdf:   <http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX rdfs:  <http://www.w3.org/2000/01/rdf-schema#>

SELECT ?chromosome ?chromosome_class ?label ?length
FROM <http://rdfportal.org/dataset/hco>
WHERE {
  ?chromosome rdf:type ?chromosome_class ;
              hco:length ?length .

  ?chromosome_class rdfs:subClassOf hco:HumanChromosome ;
                    rdfs:label ?label .

  FILTER(STRENDS(STR(?chromosome), "/GRCh38"))
}
ORDER BY ?chromosome

Example 3

Run on Endpoint
# Retrieve a list of reference genome builds.

PREFIX hco:   <http://identifiers.org/hco/>
PREFIX rdf:   <http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX rdfs:  <http://www.w3.org/2000/01/rdf-schema#>
PREFIX skos:  <http://www.w3.org/2004/02/skos/core#>
PREFIX dct:   <http://purl.org/dc/terms/>

SELECT ?build ?label ?alt_label ?definition ?date ?length
FROM <http://rdfportal.org/dataset/hco>
WHERE {
  ?build rdf:type ?build_class ;
         rdfs:label ?label .

  OPTIONAL { ?build skos:altLabel ?alt_label . }
  OPTIONAL { ?build skos:definition ?definition . }
  OPTIONAL { ?build dct:date ?date . }
  OPTIONAL { ?build hco:length ?length . }

  VALUES ?build_class {
    hco:GenomeBuild
    hco:GRCh37
    hco:GRCh38
  }
}
ORDER BY ?build

Schema diagram

Schema diagram for hco
Schema diagram for hco