» Articles » PMID: 15892872

The Sequence Ontology: a Tool for the Unification of Genome Annotations

Overview
Journal Genome Biol
Specialties Biology
Genetics
Date 2005 May 17
PMID 15892872
Citations 387
Authors
Affiliations
Soon will be listed here.
Abstract

The Sequence Ontology (SO) is a structured controlled vocabulary for the parts of a genomic annotation. SO provides a common set of terms and definitions that will facilitate the exchange, analysis and management of genomic data. Because SO treats part-whole relationships rigorously, data described with it can become substrates for automated reasoning, and instances of sequence features described by the SO can be subjected to a group of logical operations termed extensional mereology operators.

Citing Articles

VarGuideAtlas: a repository of variant interpretation guidelines.

Costa M, Garcia S A, Pastor O Database (Oxford). 2025; 2025.

PMID: 40067792 PMC: 11895764. DOI: 10.1093/database/baaf017.


Multivariable regression models improve accuracy and sensitive grading of antibiotic resistance mutations in Mycobacterium tuberculosis.

Kulkarni S, Laurent S, Miotto P, Walker T, Chindelevitch L, Nathanson C Nat Commun. 2025; 16(1):2149.

PMID: 40032816 PMC: 11876447. DOI: 10.1038/s41467-025-57174-1.


An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.

Graefe A, Hubner M, Rehburg F, Sander S, Klopfenstein S, Alkarkoukly S Sci Data. 2025; 12(1):234.

PMID: 39922817 PMC: 11807222. DOI: 10.1038/s41597-025-04558-z.


Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.

Mohseni Ahooyi T, Stear B, Simmons J, Nemarich C, Silverstein J, Taylor D Sci Data. 2025; 12(1):52.

PMID: 39799122 PMC: 11724927. DOI: 10.1038/s41597-024-04358-x.


GDBr: genomic signature interpretation tool for DNA double-strand break repair mechanisms.

Ryu H, Han H, Kim C, Kim J Nucleic Acids Res. 2025; 53(2).

PMID: 39797734 PMC: 11724358. DOI: 10.1093/nar/gkae1295.


References
1.
Stein L, Sternberg P, Durbin R, Thierry-Mieg J, Spieth J . WormBase: network access to the genome and biology of Caenorhabditis elegans. Nucleic Acids Res. 2000; 29(1):82-6. PMC: 29781. DOI: 10.1093/nar/29.1.82. View

2.
. Creating the gene ontology resource: design and implementation. Genome Res. 2001; 11(8):1425-33. PMC: 311077. DOI: 10.1101/gr.180801. View

3.
Stajich J, Block D, Boulez K, Brenner S, Chervitz S, Dagdigian C . The Bioperl toolkit: Perl modules for the life sciences. Genome Res. 2002; 12(10):1611-8. PMC: 187536. DOI: 10.1101/gr.361602. View

4.
Lewis B, Green R, Brenner S . Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A. 2002; 100(1):189-92. PMC: 140922. DOI: 10.1073/pnas.0136770100. View

5.
Rhee S, Beavis W, Berardini T, Chen G, Dixon D, Doyle A . The Arabidopsis Information Resource (TAIR): a model organism database providing a centralized, curated gateway to Arabidopsis biology, research materials and community. Nucleic Acids Res. 2003; 31(1):224-8. PMC: 165523. DOI: 10.1093/nar/gkg076. View