FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation

J.T. Bolleman, C.J. Mungall, F. Strozzi, J. Baran, M. Dumontier, R.J.P. Bonnal, R. Buels, R. Hoehndorf, T. Fujisawa, T. Katayama, P.J.A. Cock
J Biomed Semantics, 7:39, (2016)

FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation

Keywords

SPARQL, RDF, Semantic Web, Standardisation, Sequence ontology, Annotation, Data integration, Sequence feature

Abstract

Background

Nucleotide and protein sequence feature annotations are essential to understand biology on the genomic, transcriptomic, and proteomic level. Using Semantic Web technologies to query biological annotations, there was no standard that described this potentially complex location information as subject-predicate-object triples.

Description

We have developed an ontology, the Feature Annotation Location Description Ontology (FALDO), to describe the positions of annotated features on linear and circular sequences. FALDO can be used to describe nucleotide features in sequence records, protein annotations, and glycan binding sites, among other features in coordinate systems of the aforementioned “omics” areas. Using the same data format to represent sequence positions that are independent of file formats allows us to integrate sequence data from multiple sources and data types. The genome browser JBrowse is used to demonstrate accessing multiple SPARQL endpoints to display genomic feature annotations, as well as protein annotations from UniProt mapped to genomic locations.

Conclusions

Our ontology allows users to uniformly describe – and potentially merge – sequence annotations from multiple sources. Data sources using FALDO can prospectively be retrieved using federalised SPARQL queries against public SPARQL endpoints and/or local private triple stores.

Code

DOI: 10.1186/s13326-016-0067-z

Sources

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