Author

Josu Aguirre

Universitat Autònoma de BarcelonaORCID 0000-0002-9601-636XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Casandra Riera· 1 shared Lídia FeliubadalóiD· 1 shared Natàlia PadillaiD· 1 shared Selen ÖzkaniD· 1 shared Xavier de la CruziD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperBioinformatics

Casandra Riera

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1 paper

Recent·Most cited

BioinformaticsInternational Journal of Molecular SciencesPeer-reviewedJul 24, 2023

Choosing variant interpretation tools for clinical applications: context matters

Josu Aguirre, Natàlia Padilla, Selen Özkan…·Xavier de la Cruz

The paper introduces cost models to compare pathogenicity predictors in clinical contexts, showing no optimal predictor exists for all scenarios and highlighting the importance of rejection classifiers.

7 citations

whole-exome sequencingstatistical model

𝕏 PostBluesky