Author

Nga Thi Thuy Nguyen

Centre National de la Recherche ScientifiqueORCID 0000-0002-8390-9097Unclaimed 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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Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandra LouisiD· 1 shared Camille BerthelotiD· 1 shared Hugues Roest CrolliusiD· 1 shared Lambert MoyoniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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4 top collaborators · 6 mutual co-author links

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1 shared paperBioinformatics

Alexandra LouisORCID

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1 paper

Recent·Most cited

BioinformaticsPLoS GeneticsPeer-reviewedApr 29, 2022

Classification of non-coding variants with high pathogenic impact

Lambert Moyon, Camille Berthelot, Alexandra Louis…·Hugues Roest Crollius

This paper introduces FINSURF, a machine learning tool that improves the prediction of pathogenic non-coding variants, achieving high accuracy in identifying disease-causing variants in clinical settings.

31 citationstop 5%

humanwhole-genome sequencing

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