Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy

LLMs promise to accelerate EMR abstraction for rare diseases such as muscular dystrophy, but F1 scores for LLMs currently lag manual abstractions for unstructured data. Llama 3-8b demonstrated superior performance to the 4 other models tested. Metadata such as ICD code counts may help prioritize high-yield cases for surveillance and research purposes.

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Publication Details

Journal
Neurology Clinical Practice
Published
2025-09-23
DOI
https://doi.org/10.1212/cpj.0000000000200542
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy

Yara Mohamed, Jiatan Huang, Huixue Zhou, Erjia Cui et al.
Neurology Clinical Practice
Genomics and Rare Diseases
article

Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy

Yara Mohamed, Jiatan Huang, Huixue Zhou, Erjia Cui, Peter B. Kang, Carla D. Zingariello, Geetanjali Rajamani, Magali Jorand‐Fletcher, Rui Zhang, Kody A. DeGolier, Annette Xenopoulos-Oddsson
article en

Abstract

LLMs promise to accelerate EMR abstraction for rare diseases such as muscular dystrophy, but F1 scores for LLMs currently lag manual abstractions for unstructured data. Llama 3-8b demonstrated superior performance to the 4 other models tested. Metadata such as ICD code counts may help prioritize high-yield cases for surveillance and research purposes.

Neurology Clinical PracticeVol. 15(6)
University of Minnesota (US), Muscular Dystrophy Association (US), Allen Institute for Brain Science (US), University of Florida (US), University of Minnesota Medical Center (US), Minnesota Department of Health (US), Florida College (US)
Openalex Percentile: Top 72%
Genomics and Rare Diseases
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