Author

Karen O’Connor

University of PennsylvaniaORCID 0000-0001-7709-3813Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1 Research Focus:genome assembly· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Graciela Gonzalez‐HernandeziD· 2 shared Arjun MaggeiD· 1 shared Davy WeissenbacheriD· 1 shared Ian M. CampbelliD· 1 shared Jessica R. C. PriestleyiD· 1 shared Katherine M. SzigetyiD· 1 shared Mary J. Higgins· 1 shared Matthew ScotchiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Graciela Gonzalez‐HernandezORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 4, 2025

A Metadata-Driven Framework for Strengthening Pathogen Genomics Lessons from SARS-CoV-2

Michael J. Pavia, Karen O’Connor, Graciela Gonzalez‐Hernandez, Matthew Scotch

This paper evaluates metadata completeness in SARS-CoV-2 genomic records and shows how enriched metadata improves genomic epidemiology analyses.

DOI 10.1101/2025.11.04.25339514

viruswhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 16, 2023

PhenoID, a language model normalizer of physical examinations from genetics clinical notes

Davy Weissenbacher, Siddharth Rawal, Xinwei Zhao…·Ian M. Campbell

PhenoID is a transformer-based NLP system that normalizes dysmorphology exam findings into HPO terms, achieving state-of-the-art performance on phenotype extraction from clinical notes.

5 citations

humanelectronic health records

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