Author

Reed Edwin Pyeritz

University of PennsylvaniaORCID 0000-0002-3288-1442Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:large language model· 1

Frequent Co-Authors

Alex Rodriguez· 1 shared Anurag VermaiD· 1 shared Colleen Morse· 1 shared Giorgio SirugoiD· 1 shared Pankhuri SinghaliD· 1 shared Ravi MadduriiD· 1 shared Tarak NandiiD· 1 shared Theodore G. DrivasiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex Rodriguez

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 5, 2025

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

Pankhuri Singhal, Zilinghan Li, Ze Xiao Yang…·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.

1 citation

humanelectronic health records

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