Author

Robert Rigobello

Baylor GeneticsORCID 0009-0009-2505-9694Unclaimed 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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Research Focus:benchmarking· 1 Approach:statistical model· 1

Frequent Co-Authors

Gwendolyn Bennett· 1 shared Heidi L. RehmiD· 1 shared Izabela Karbassi· 1 shared Linyan MengiD· 1 shared Matthew S. LeboiD· 1 shared Narasimhan NaganiD· 1 shared Steven M. HarrisoniD· 1 shared Wenjie CheniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Gwendolyn Bennett

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedFeb 28, 2025

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level

Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen…·Heidi L. Rehm

The paper examines how variants of uncertain significance (VUS) are reclassified based on subclassification evidence levels across four clinical laboratories.

31 citationstop 1%

statistical modelbenchmarking

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