Author

Helen Frederiksen

Fondation Asile des Aveugles

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:large language model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre LaverréiD· 1 shared Cédric Le CaigneciD· 1 shared Eric Ducret· 1 shared Federico Andrea SantoniiD· 1 shared Jing ZhaiiD· 1 shared Muhammad AnsariD· 1 shared Mukhtar UllahiD· 1 shared Rashid Abdur· 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 LaverréORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 13, 2026

IVA, a locally deployable Intelligent Variant Analyser based on a small language model for complete case-level and trio-based genomic interpretation.

Eric Ducret, Jing Zhai, Sergey Oreshkov…·Federico Andrea Santoni

IVA uses a small language model to perform local genomic variant interpretation, achieving high sensitivity but lower precision in identifying pathogenic variants.

DOI 10.64898/2026.10.07.26364945

humanwhole-exome sequencing

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