The Human Ancestry Ontology (HAncestro) provides a systematic description of the ancestry concepts used in the NHGRI-EBI Catalog of published genome-wide association studies. It includes a list of countries, regions and major areas (essentially continents), as well as a fairly exhaustive list of defined ancestral categories, uncategorised ancestral categories and population isolates.

The following HANCESTRO release files are provided

• hancestro.owl - full pre-reasoned version of HANCESTRO wtih all imports fitted into the BFO upper hierarchy
• hancestro-full.owl - same as hancestro.owl
• hancestro-base.owl - base version of HANCESTRO with only native axioms and no imports

For questions and comments and to report any issues, please email Danielle Welter at dwelter.ontologist@gmail.com. To submit a feature request, submit a ticket via the HANCESTRO Github issue tracker.

Creative Commons CC-BY 4.0

Please cite Joannella Morales, Danielle Welter, Emily H. Bowler, Maria Cerezo, Laura W. Harris, Aoife C. McMahon, Peggy Hall, Heather A. Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, Fiona Cunningham, Lucia A. Hindorff and Jacqueline A. L. MacArthur. A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog. Genome Biology, 2018, 19:21

To reference a specific version of the ontology, please provide a link to this GITHUB repo, including the tag for the version you downloaded and the date of the download.

For more information, take a look at our website, which includes an FAQ and a detailed explanation of our ontology design patterns

##Ancestry Ontology - Release Notes ##

Date Released: 21 June 2024

Class Count: 1045

• AfPO import: As of release v2023-06-21, HANCESTRO defers to the African Population Ontology (AfPO) on all terminology relating to African populations.
• Renamed geographic category (HANCESTRO:0602) to geography-based population category
• Renamed Hispanic or Latin American (HANCESTRO:0014) to Latin or Admixed American and reclassified several population descriptors from undefined ancestry population (HANCESTRO:0566) to Latin or Admixed American
• Renamed Native American (HANCESTRO:0013) to Indigenous American, and added separate sub-classes for Indigenous in North America (HANCESTRO:0610) and Indigenous in South America (HANCESTRO:0611) with a number of indigenous populations in each category
• Added Hispanic (HANCESTRO:0612)
• Moved from HERMIT to ELK as our ontology reasoner
  • Adjusted some axiomatisations to conform to OWL2-EL to maintain reasoned hierarchy with ELK.

See the release notes for further details of most recent changes or check out our new automatically generated ontology diff report.

The latest version of the ontology can always be found at:

http://purl.obolibrary.org/obo/hancestro.owl

Editors of this ontology should use the edit version, src/ontology/hancestro-edit.ofn

This ontology repository was created using the ODK - Ontology Development Kit