Author

Joan O'Brien

University of Pennsylvania

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 Assay:bulk RNA-seq· 1 Research Focus:GWAS / association mapping· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Ahmara Gibbons Ross· 1 shared Alex William HewittiD· 1 shared Andrew John LoteryiD· 1 shared Anthony P. KhawajaiD· 1 shared Antonia KolovosiD· 1 shared Anurag VermaiD· 1 shared Aude Benigne Ikuzwe SindikubwaboiD· 1 shared Ayub QassimiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmara Gibbons Ross

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2 papers

Recent·Most cited

Step change in glaucoma polygenic risk score performance enables clinical utility and disease prediction across all major ancestries

Stuart MacGregor, Guiyan Ni, Mathias Seviiri, Antonia Kolovos, Ngoc‐Quynh Le, Mark Hassall, Joshua M. Schmidt, Puya Gharahkhani, Victoria Tang, Emmanuelle Souzeau, Ayub Qassim, Priyanka Nandakumar, Suyash Shringarpure, Julie M. Granka, Jessica N. Cooke Bailey, , Jamie E. Craig

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

medRxiv · Jan 24, 2026 · PreprintGenetic & Genomic Medicine

Endophenotype-Informed Polygenic Risk Stratification for Primary Open-Angle Glaucoma in individuals of African Ancestry

Aude Benigne Ikuzwe Sindikubwabo, Lannawill Caruth, Yan Zhu, Yuki Bradford, Colleen Morse, Mina Halimitabrizi, Leila Ghaffari, Rebecca Salowe, Roy Lee, Anurag Verma, Marijana Vujković, Ahmara Gibbons Ross, Joan O'Brien, Shefali Setia-Verma

This paper develops endophenotype-informed polygenic risk scores for POAG in African ancestry individuals, showing improved clinical interpretability and risk stratification compared to aggregate scores.

medRxiv · Sep 29, 2025 · PreprintGenetic & Genomic Medicine