<p>Evaluation of a high-recall search engine, Variomes, to curate oligogenic diseases variants</p>

Anaïs Mottaz; Charlotte Nachtegael; Tom Lenaerts; Luana Licata; Emilie Pasche; Luc Mottin; Déborah Caucheteur; Julien Gobeill; Patrick Ruch

doi:10.7490/f1000research.1120134.1

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Mottaz A, Nachtegael C, Lenaerts T et al. Evaluation of a high-recall search engine, Variomes, to curate oligogenic diseases variants [version 1; not peer reviewed]. F1000Research 2025, 14:370 (poster) (https://doi.org/10.7490/f1000research.1120134.1)

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Evaluation of a high-recall search engine, Variomes, to curate oligogenic diseases variants

Anaïs Mottaz¹, Charlotte Nachtegael, Tom Lenaerts, Luana Licata, Emilie Pasche, Luc Mottin, Déborah Caucheteur, Julien Gobeill, Patrick Ruch

Published 31 Mar 2025 (https://doi.org/10.7490/f1000research.1120134.1)

Author Affiliations

¹ SIB Text Mining, Swiss Institute of Bioinformatics Geneva, Geneva, Switzerland

Copyright © 2025 Mottaz A et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Published 31 Mar 2025

Evaluation of a high-recall search engine, Variomes, to curate oligogenic diseases variants
[version 1; not peer reviewed]

Anaïs Mottaz¹, Charlotte Nachtegael, Tom Lenaerts, Luana Licata, Emilie Pasche, Luc Mottin, Déborah Caucheteur, Julien Gobeill, Patrick Ruch

Author Affiliations

¹ SIB Text Mining, Swiss Institute of Bioinformatics Geneva, Geneva, Switzerland

Presented at

18th Annual International Biocuration Conference 2025

Abstract

Competing Interests

No competing interests were disclosed

Keywords

Phenotype curation, Literature mining, Genes, Databases

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