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Michel Dumontier

Publications and source records attributed to Michel Dumontier.

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Publishing DisGeNET as Nanopublications

The increasing and unprecedented publication rate in the biomedical field is a major bottleneck for discovery in Life Sciences. The scientific community cannot process assertions from biomedical publications and integrate them into the current knowledge at the same rate. The automatic extraction of assertions about entities and their relationships by text-mining the scientific literature is an extended approach to structure up-to-date knowledge. For knowledge integration, the publication of assertions in the Semantic Web is gaining adoption, but it opens new challenges regarding the tracking of the provenance, and how to ensure versioned data linking. Nanopublications are a new way of publishing structured data that consists of an assertion along with its provenance. Trusty URIs is a novel approach to make resources in the Web immutable, and to ensure the unambiguity of the data linking in the (semantic) Web. We present the publication of DisGeNET nanopublications as a new Linked Dataset implemented in combination of the Trusty URIs approach. DisGeNET is a database of human gene-disease associations from expert-curated databases and text-mining the scientific literature. With a series of illustrative queries we demonstrate its utility.

Bioinformatics

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

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.\n\nDescription 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.\n\nConclusions 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.

Bioinformatics