Author

Katie L. Larkin

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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:polygenic risk· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Niall J. LennoniD· 3 shared C. KachulisiD· 2 shared Diana M. ToledoiD· 2 shared Edyta Małolepsza· 2 shared Sean E. Hofherr· 2 shared Adam Gordon· 1 shared Adam Stuart KibeliD· 1 shared Amit V. KheraiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Niall J. LennonORCID

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Author profile →

3 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

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

Niall J. Lennon, Leah Claire Kottyan, C. Kachulis, Noura S. Abul‐Husn, Josh Arias, Gillian M. Belbin, Jennifer Elizabeth Below, Sonja I. Berndt, Wendy K. Chung, James J. Cimino, Ellen Wright Clayton, John J. Connolly, David R. Crosslin, Ozan Dikilitas, Digna R. Velez Edwards, , Eimear E. Kenny

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

medRxiv · May 25, 2023 · PreprintGenetic & Genomic Medicine