Author

Yannis Lombardi

Assistance Publique – Hôpitaux de ParisORCID 0000-0001-9031-1862Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 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-exome sequencing· 1

Frequent Co-Authors

Alexandre Boulat· 1 shared Jean‐Marie RaveliD· 1 shared Jérôme Audoux· 1 shared Jiri Ruzicka· 1 shared Julien ThévenoniD· 1 shared Kévin YauyiD· 1 shared Laure RaymondiD· 1 shared Laurent MesnardiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre Boulat

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1 paper

Recent·Most cited

Genetic & Genomic MedicineCurrent Issues in Molecular BiologyPeer-reviewedJul 11, 2026

Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing

Jiri Ruzicka, Jean‐Marie Ravel, Jérôme Audoux…·Laurent Mesnard

DiagAI, a machine-learning system, improves variant interpretation in genetic testing by prioritizing causal variants, outperforming existing tools with higher diagnostic yield and shorter variant shortlists.

DOI 10.3390/cimb48070706

humanwhole-exome sequencing

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