Author

Alexander Antipenko

Rockefeller University

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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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared Bertrand BoissoniD· 2 shared Laurent AbeliD· 2 shared Alain FischeriD· 1 shared Alain Lefèvre‐UtileiD· 1 shared Andrew John PollardiD· 1 shared Angela L. HewlettiD· 1 shared Anne PueliD· 1 shared

Activity by Year

2015-2018 · peak 1/yr

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10 top collaborators · 39 mutual co-author links

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2 shared papersGenetics

Alexandre BolzeORCID

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2 papers

Recent·Most cited

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch, Alexander Antipenko, Matthieu Bouaziz, Paul E. Sackstein, Malik Chaker-Margot, Vincent Barlogis, Tracy Ann Briggs, Elena Colino, Aurora C. Elmore, Alain Fischer, Ferah Genel, Angela L. Hewlett, Maher Jedidi, , Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

Proceedings of the National Academy of Sciences · Aug 2, 2018Peer-reviewedGenetics

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurelie Cobat, Quentin B Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova, Laurent Abel

This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in six individuals, finding WGS more effective at detecting coding variants, particularly SNVs, with fewer false positives.

Proceedings of the National Academy of Sciences · Apr 28, 2015Peer-reviewedGenetics