Author

Cole Pfeifer

Northwestern University

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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Genetics· 1

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:software / tool· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carina G BiariD· 1 shared Gemma L. CarvilliD· 1 shared Jeffrey Dennis CalhouniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetics

Carina G BiarORCID

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1 paper

Recent·Most cited

Multimodal framework to resolve variants of uncertain significance in TSC2

Carina G Biar, Cole Pfeifer, Gemma L. Carvill, Jeffrey Dennis Calhoun

The paper develops TRUST, a machine learning model to predict pathogenicity of TSC2 missense variants, validated by functional assays, and provides a framework for VUS resolution.

bioRxiv · Jun 7, 2024 · PreprintGenetics