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Updated: Sep 20, 2025

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
Published on: October 13, 2023
Accelerated variant curation from scientific literature using biomedical text mining
Rishab Mallick1, Valerio Arnaboldi2, Paul Davis1
1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Abstract:
Biological databases collect and standardize data through biocuration. Even though major model organism databases have adopted some automation of curation methods, a large portion of biocuration is still performed manually. To speed up the extraction of the genomic positions of variants, we have developed a hybrid approach that combines regular expressions, Named Entity Recognition based on BERT (Bidirectional Encoder Representations from Transformers) and bag-of-words to extract variant genomic locations from C. elegans papers for WormBase. Our model has a precision of 82.59% for the gene-mutation matches tested on extracted text from 100 papers, and even recovers some data not discovered during manual curation. Code at: https://github.com/WormBase/genomic-info-from-papers.
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