Author

Quentin Sabbagh

InsermORCID 0000-0003-4600-5387Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:deconvolution· 1 Approach:deep learning· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared Alexander HoischeniD· 1 shared Alexander P.A. StegmanniD· 1 shared Amber den OudeniD· 1 shared Arjen R. MensenkampiD· 1 shared Arthur van den Wijngaard· 1 shared Bart P. G. H. van der SandeniD· 1 shared Camille CenniiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNew England Journal of MedicinePeer-reviewedJun 13, 2026

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath…·Lisenka E.L.M. Vissers

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

6 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJul 27, 2023

Assessing feasibility and risk to translate, de-identify and summarize medical reports using deep learning

Lucas W. Gauthier, Marjolaine Willems, Nicolas Chatron…·Kévin Yauy

This paper evaluates deep learning methods for translating, de-identifying, and summarizing non-English medical reports, finding non-inferior performance in de-identification and high accuracy in summarization.

1 citation

electronic health recordsdeep learning

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