human-ancestry-ontology

HANCESTRO

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

Contact Details

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.

Licence

Creative Commons CC-BY 4.0

Citing HANCESTRO

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.

Documentation & FAQ

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

Current release: v2024-08-19

Date Released: 19 August 2024

Class Count: 1259

• Reference populations: The latest release of HANCESTRO includes all reference populations from projects such as the 1000 Genomes Project and the Human Genome Diversity Project (HGDP), as listed on the International Genome Sample Resource (IGSR). Reference populations are grouped under the new parent term reference population (HANCESTRO:0632).

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

Versions

Stable release versions

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

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

Editors' version

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

Acknowledgements

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