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

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Katie L. Larkin

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

Yueyao Gao, Sarah T. South, Colyn B. Cargile, Julie L Cox, Mark Fleharty, Benjamin Hilton, Katie L. Larkin, Guang Li, David W Marsh, Victoria Popic, Reha M. Toydemir, Sean E. Hofherr, Niall J. Lennon, 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.

medRxiv · May 24, 2025 · PreprintGenetic & Genomic Medicine

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, Michael Gatzen, C. Kachulis, Niall J. Lennon, Charles A. Brunette, Morgan E. Danowski, Richard L. Hauger, Isla P. Garraway, Adam Stuart Kibel, Kyung Min Lee, Julie Ann Lynch, Kara N. Maxwell, Brent Shane Rose, , 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.

medRxiv · Nov 3, 2024 · PreprintGenetic & Genomic Medicine