Author

Elsa Kaphan

Hôpital de la TimoneORCID 0000-0002-0155-8597Unclaimed 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:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aleksandra Nadaj‐PaklezaiD· 1 shared Annabelle ChaussenotiD· 1 shared Béatrice LannesiD· 1 shared Cécile RouzieriD· 1 shared Chloe Prosper· 1 shared Elamine ZeregiD· 1 shared Éléonore Birgy· 1 shared Francou Bruno· 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

Aleksandra Nadaj‐PaklezaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineMitochondrionPeer-reviewedMay 17, 2026

Challenging mtDNA tRNA Variant Guidelines: Emphasizing Single-Cell Analysis through Four Novel Variants

Chloe Prosper, Elamine Zereg, Annabelle Chaussenot…·Cécile Rouzier

This study reclassifies four novel mtDNA variants using single-cell NGS analysis, highlighting the need for functional evidence and standardized criteria in variant interpretation.

DOI 10.1016/j.mito.2026.102170

humanwhole-genome sequencing

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