Evidence map›Paper›PMID 38940182›Full record

ArticleBioinformatics (Oxford, England)2024

Integration of background knowledge for automatic detection of inconsistencies in gene ontology annotation.

Jiyu Chen, Benjamin Goudey, Nicholas Geard, Karin Verspoor

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Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

  1. Article
  2. A review on Gene Ontology evaluations.Database : the journal of biological databases and curation · 2025
    Review
4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Jiyu ChenSchool of Computing and Information Systems, The University of Melbourne, Parkville 3010, VIC, Australia.
Benjamin GoudeySchool of Computing and Information Systems, The University of Melbourne, Parkville 3010, VIC, Australia.
Nicholas GeardSchool of Computing and Information Systems, The University of Melbourne, Parkville 3010, VIC, Australia.
Karin VerspoorSchool of Computing Technologies, RMIT University, Melbourne, Victoria 3000, Australia.ORCID 0000-0002-8661-1544

Funding

Australian Research Council Discovery DP190101350
6 · The paper itself

Abstract

motivationBiological background knowledge plays an important role in the manual quality assurance (QA) of biological database records. One such QA task is the detection of inconsistencies in literature-based Gene Ontology Annotation (GOA). This manual verification ensures the accuracy of the GO annotations based on a comprehensive review of the literature used as evidence, Gene Ontology (GO) terms, and annotated genes in GOA records. While automatic approaches for the detection of semantic inconsistencies in GOA have been developed, they operate within predetermined contexts, lacking the ability to leverage broader evidence, especially relevant domain-specific background knowledge. This paper investigates various types of background knowledge that could improve the detection of prevalent inconsistencies in GOA. In addition, the paper proposes several approaches to integrate background knowledge into the automatic GOA inconsistency detection process.

resultsWe have extended a previously developed GOA inconsistency dataset with several kinds of GOA-related background knowledge, including GeneRIF statements, biological concepts mentioned within evidence texts, GO hierarchy and existing GO annotations of the specific gene. We have proposed several effective approaches to integrate background knowledge as part of the automatic GOA inconsistency detection process. The proposed approaches can improve automatic detection of self-consistency and several of the most prevalent types of inconsistencies. This is the first study to explore the advantages of utilizing background knowledge and to propose a practical approach to incorporate knowledge in automatic GOA inconsistency detection. We establish a new benchmark for performance on this task. Our methods may be applicable to various tasks that involve incorporating biological background knowledge. AVAILABILITY AND IMPLEMENTATION: https://github.com/jiyuc/de-inconsistency.

Indexed as

Gene OntologyMolecular Sequence AnnotationComputational BiologyDatabases, GeneticHumansSemantics

Identifiers

PMID38940182
PMCPMC11256942

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.