Author

Sean E. Hofherr

Broad Institute

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

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Katie L. Larkin· 2 shared Niall J. LennoniD· 2 shared Adam Stuart KibeliD· 1 shared Ana Vega· 1 shared Anders Martin DaleiD· 1 shared Anna M. DornischiD· 1 shared Anna PlymiD· 1 shared Azad Razack· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Katie L. Larkin

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 24, 2025

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR Testing

Yueyao Gao, Sarah T. South, Colyn B. Cargile…·Peter H Bui

This study shows that whole-genome sequencing can replace chromosomal microarray and Fragile X testing with higher accuracy and broader coverage for genetic disorders.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintNov 3, 2024

From a genomic risk model to clinical trial implementation in a learning health system: the ProGRESS Study

Jason L. Vassy, Anna M. Dornisch, Roshan A. Karunamuni…·Tyler M. Seibert

The paper develops a polygenic risk model for prostate cancer using VA data and validates it in external cohorts, showing its clinical utility in risk stratification.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky