Author

Emily Alsentzer

Harvard UniversityORCID 0000-0002-5370-1746Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Approach:simulation· 1

Frequent Co-Authors

Isaac S. KohaneiD· 2 shared Michelle M. LiiD· 2 shared Shilpa N. KobreniD· 2 shared Undiagnosed Diseases Network· 2 shared Ayush NooriiD· 1 shared Marinka ŽitnikiD· 1 shared Samuel G. FinlaysoniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Isaac S. KohaneORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Digital MedicinePeer-reviewedJun 20, 2025

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

Emily Alsentzer, Michelle M. Li, Shilpa N. Kobren…·Marinka Žitnik

SHEPHERD uses few-shot learning and a knowledge graph to improve diagnosis of rare genetic diseases using simulated data and real-world patient cohorts.

54 citationstop 1%

humandeep learning

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedOct 12, 2023

Simulation of undiagnosed patients with novel genetic conditions

Emily Alsentzer, Samuel G. Finlayson, Michelle M. Li…·Isaac S. Kohane

This paper simulates patients with novel genetic conditions to evaluate gene prioritization methods in diagnosing rare disorders.

10 citations

humansimulation