Author

Stéphanie Baert‐Desurmont

InsermORCID 0000-0002-1172-4157Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abdoulaye Diallo· 1 shared Aïcha BoughalemiD· 1 shared Alexandra MartinsiD· 1 shared Amanda B. SpurdleiD· 1 shared Andreas LaneriD· 1 shared Anne-Laure Bougé· 1 shared Armelle Luscan· 1 shared Bryony A. ThompsoniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdoulaye Diallo

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 13, 2024

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

7 citations

statistical modelvariant effect prediction

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 17, 2022

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

Kévin Yauy, François Lecoquierre, Stéphanie Baert‐Desurmont…·Nicolas Philippe

Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky