Author

Khoren Ponsin

Rockefeller University

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Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Aurélie CobatiD· 1 shared Clément ConiliD· 1 shared Haralambos A. MourelatosiD· 1 shared Jean‐Laurent CasanovaiD· 1 shared Jonathan BohleniD· 1 shared Matthieu ChaldebasiD· 1 shared Peng ZhangiD· 1 shared Yoann SeeleuthneriD· 1 shared

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2026-2026 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aurélie CobatORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 11, 2026

Mechanistic 5'UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank

Matthieu Chaldebas, Khoren Ponsin, Haralambos A. Mourelatos…·Aurélie Cobat

The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.

DOI 10.64898/2026.09.09.26362607

humanGWAS summary statistics

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