Automatic consistency assurance for literature-based gene ontology annotation.


Journal

BMC bioinformatics
ISSN: 1471-2105
Titre abrégé: BMC Bioinformatics
Pays: England
ID NLM: 100965194

Informations de publication

Date de publication:
25 Nov 2021
Historique:
received: 12 04 2021
accepted: 15 11 2021
entrez: 26 11 2021
pubmed: 27 11 2021
medline: 30 11 2021
Statut: epublish

Résumé

Literature-based gene ontology (GO) annotation is a process where expert curators use uniform expressions to describe gene functions reported in research papers, creating computable representations of information about biological systems. Manual assurance of consistency between GO annotations and the associated evidence texts identified by expert curators is reliable but time-consuming, and is infeasible in the context of rapidly growing biological literature. A key challenge is maintaining consistency of existing GO annotations as new studies are published and the GO vocabulary is updated. In this work, we introduce a formalisation of biological database annotation inconsistencies, identifying four distinct types of inconsistency. We propose a novel and efficient method using state-of-the-art text mining models to automatically distinguish between consistent GO annotation and the different types of inconsistent GO annotation. We evaluate this method using a synthetic dataset generated by directed manipulation of instances in an existing corpus, BC4GO. We provide detailed error analysis for demonstrating that the method achieves high precision on more confident predictions. Two models built using our method for distinct annotation consistency identification tasks achieved high precision and were robust to updates in the GO vocabulary. Our approach demonstrates clear value for human-in-the-loop curation scenarios.

Sections du résumé

BACKGROUND BACKGROUND
Literature-based gene ontology (GO) annotation is a process where expert curators use uniform expressions to describe gene functions reported in research papers, creating computable representations of information about biological systems. Manual assurance of consistency between GO annotations and the associated evidence texts identified by expert curators is reliable but time-consuming, and is infeasible in the context of rapidly growing biological literature. A key challenge is maintaining consistency of existing GO annotations as new studies are published and the GO vocabulary is updated.
RESULTS RESULTS
In this work, we introduce a formalisation of biological database annotation inconsistencies, identifying four distinct types of inconsistency. We propose a novel and efficient method using state-of-the-art text mining models to automatically distinguish between consistent GO annotation and the different types of inconsistent GO annotation. We evaluate this method using a synthetic dataset generated by directed manipulation of instances in an existing corpus, BC4GO. We provide detailed error analysis for demonstrating that the method achieves high precision on more confident predictions.
CONCLUSIONS CONCLUSIONS
Two models built using our method for distinct annotation consistency identification tasks achieved high precision and were robust to updates in the GO vocabulary. Our approach demonstrates clear value for human-in-the-loop curation scenarios.

Identifiants

pubmed: 34823464
doi: 10.1186/s12859-021-04479-9
pii: 10.1186/s12859-021-04479-9
pmc: PMC8620237
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

565

Subventions

Organisme : Australian Research Council
ID : DP190101350

Informations de copyright

© 2021. The Author(s).

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Auteurs

Jiyu Chen (J)

School of Computing and Information Systems, University of Melbourne, Melbourne, 3010, Australia.

Nicholas Geard (N)

School of Computing and Information Systems, University of Melbourne, Melbourne, 3010, Australia.

Justin Zobel (J)

School of Computing and Information Systems, University of Melbourne, Melbourne, 3010, Australia.

Karin Verspoor (K)

School of Computing and Information Systems, University of Melbourne, Melbourne, 3010, Australia. karin.verspoor@rmit.edu.au.
School of Computing Technologies, RMIT University, Melbourne, VIC, 3000, Australia. karin.verspoor@rmit.edu.au.

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Classifications MeSH