Author

Ganna Balagura

University of GenoaORCID 0000-0003-0212-8318Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Assay:electronic health records· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christian M. BoßelmanniD· 2 shared Ethan M. GoldbergiD· 2 shared Ahmad A. BeydouniD· 1 shared Alfred L. GeorgeiD· 1 shared Alica M. GoldmaniD· 1 shared Alison AndersoniD· 1 shared Andreas BrunklausiD· 1 shared Andrew J. ColeiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian M. BoßelmannORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature NeurosciencePeer-reviewedOct 1, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

72 citationstop 1%

humanwhole-exome sequencing

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GeneticsbioRxivPreprintMay 9, 2024

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

Shridhar Parthasarathy, Stacey R. Cohen, Eryn Fitch…·Ingo Helbig

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

1 citation

humanelectronic health records

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