Author

Chansonette Badduke

Exact Sciences (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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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 effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amit TiroshiD· 1 shared Bailey GallingeriD· 1 shared Chloe E. Mighton· 1 shared Chung Ting Tsoi· 1 shared Clare Sheen· 1 shared Deborah RitteriD· 1 shared Eamonn Richard MaheriD· 1 shared Elif Tuzlali· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amit TiroshORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 1, 2026

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

Deborah Ritter, Chansonette Badduke, Kurston Doonanco…·Raymond H. Kim

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

2 citationstop 5%

humanwhole-exome sequencing

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