Author

Maria‐Christina Kotta

IRCCS Istituto Auxologico ItalianoORCID 0000-0001-9629-2172Unclaimed 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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Approach:Bayesian inference· 1 Assay:DNA methylation· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Antoine LeenhardtiD· 1 shared Asami KashiwaiD· 1 shared Brett M. KronckeiD· 1 shared Carla SpazzoliniiD· 1 shared Dan M. RodeniD· 1 shared Fabrice ExtramianaiD· 1 shared Federica DagradiiD· 1 shared Isabelle DenjoyiD· 1 shared

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2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Antoine LeenhardtORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 7, 2022

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

Matthew J. O’Neill, Luca Sala, Isabelle Denjoy…·Brett M. Kroncke

The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.

19 citations

humanDNA methylation

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