Author

Colleen Morse

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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Assay:electronic health records· 1 Research Focus:GWAS / association mapping· 1 Approach:large language model· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Anurag VermaiD· 3 shared Ahmara Gibbons Ross· 1 shared Alex Rodriguez· 1 shared Arslan A. ZaidiiD· 1 shared Aude Benigne Ikuzwe SindikubwaboiD· 1 shared Giorgio SirugoiD· 1 shared Iain MathiesoniD· 1 shared Joan O'Brien· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Anurag VermaORCID

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3 papers

Recent·Most cited

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

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

Pankhuri Singhal, Zilinghan Li, Ze Xiao Yang, Tarak Nandi, Colleen Morse, Zachary Rodriguez, Alex Rodriguez, Volodymyr Kindratenko, Giorgio Sirugo, Reed Edwin Pyeritz, Theodore G. Drivas, Ravi Madduri, Anurag Verma

This paper develops an open-source LLM-based pipeline to identify patients with rare genetic aortopathies using clinical notes, achieving high accuracy in recommending genetic testing.

medRxiv · Sep 5, 2025 · PreprintGenetic & Genomic Medicine

The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort

Arslan A. Zaidi, Anurag Verma, Colleen Morse, Penn Medicine BioBank, Marylyn DeRiggi Ritchie, Iain Mathieson

This study investigates mtDNA copy number (mtCN) in a diverse cohort, finding ancestry-specific genetic and phenotypic associations and highlighting the impact of blood cell composition on results.

Human Genetics and Genomics Advances · May 9, 2023Peer-reviewedGenetic & Genomic Medicine