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 "ONTOLOGY"
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Self-prediction of relations in GO facilitates its quality auditing.

Publication Type: Academic Journal

Source(s): Journal of biomedical informatics [J Biomed Inform] 2023 Aug; Vol. 144, pp. 104441. Date of Electronic Publication: 2023 Jul 10.

Authors:

Abstract: As applications of the gene ontology (GO) increase rapidly in the biomedical field, quality auditing of it is becoming more and more important. Existing auditing methods are mostly based on rules, observed patterns or hypotheses. In this study, we prop...

SBOannotator: a Python tool for the automated assignment of systems biology ontology terms.

Publication Type: Academic Journal

Source(s): Bioinformatics (Oxford, England) [Bioinformatics] 2023 Jul 01; Vol. 39 (7).

Abstract: Motivation: The number and size of computational models in biology have drastically increased over the past years and continue to grow. Modeled networks are becoming more complex, and reconstructing them from the beginning in an exchangeable and reprod...

mOWL: Python library for machine learning with biomedical ontologies.

Publication Type: Academic Journal

Source(s): Bioinformatics (Oxford, England) [Bioinformatics] 2023 Jan 01; Vol. 39 (1).

Abstract: Motivation: Ontologies contain formal and structured information about a domain and are widely used in bioinformatics for annotation and integration of data. Several methods use ontologies to provide background knowledge in machine learning tasks, whic...

Multi-domain knowledge graph embeddings for gene-disease association prediction.

Publication Type: Academic Journal

Source(s): Journal of biomedical semantics [J Biomed Semantics] 2023 Aug 14; Vol. 14 (1), pp. 11. Date of Electronic Publication: 2023 Aug 14.

Abstract: Background: Predicting gene-disease associations typically requires exploring diverse sources of information as well as sophisticated computational approaches. Knowledge graph embeddings can help tackle these challenges by creating representations of g...

Improving the classification of cardinality phenotypes using collections.

Publication Type: Academic Journal

Source(s): Journal of biomedical semantics [J Biomed Semantics] 2023 Aug 07; Vol. 14 (1), pp. 9. Date of Electronic Publication: 2023 Aug 07.

Abstract: Motivation: Phenotypes are observable characteristics of an organism and they can be highly variable. Information about phenotypes is collected in a clinical context to characterize disease, and is also collected in model organisms and stored in model ...

The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.

Publication Type: Academic Journal

Source(s): Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2023 Sep; Vol. 34 (3), pp. 364-378. Date of Electronic Publication: 2023 Apr 19.

Abstract: Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for th...

The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development.

Publication Type: Academic Journal

Source(s): BMC bioinformatics [BMC Bioinformatics] 2022 Mar 22; Vol. 23 (1), pp. 99. Date of Electronic Publication: 2022 Mar 22.

Abstract: Background: Ontologies of precisely defined, controlled vocabularies are essential to curate the results of biological experiments such that the data are machine searchable, can be computationally analyzed, and are interoperable across the biomedical r...

Logical definition-based identification of potential missing concepts in SNOMED CT.

Publication Type: Academic Journal

Source(s): BMC medical informatics and decision making [BMC Med Inform Decis Mak] 2023 May 09; Vol. 23 (Suppl 1), pp. 87. Date of Electronic Publication: 2023 May 09.

Abstract: Background: Biomedical ontologies are representations of biomedical knowledge that provide terms with precisely defined meanings. They play a vital role in facilitating biomedical research in a cross-disciplinary manner. Quality issues of biomedical on...

Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.

Publication Type: Academic Journal

Source(s): Briefings in bioinformatics [Brief Bioinform] 2023 Jul 20; Vol. 24 (4).

Authors:

Abstract: Human Phenotype Ontology (HPO)-based approaches have gained popularity in recent times as a tool for genomic diagnostics of rare diseases. However, these approaches do not make full use of the available information on disease and patient phenotypes. We...

Features of a FAIR vocabulary.

Publication Type: Academic Journal

Source(s): Journal of biomedical semantics [J Biomed Semantics] 2023 Jun 01; Vol. 14 (1), pp. 6. Date of Electronic Publication: 2023 Jun 01.

Authors:

Abstract: Background: The Findable, Accessible, Interoperable and Reusable(FAIR) Principles explicitly require the use of FAIR vocabularies, but what precisely constitutes a FAIR vocabulary remains unclear. Being able to define FAIR vocabularies, identify featur...

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