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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Augmenting Large Language Models via Vector Embeddings to Improve Domain-Specific Responsiveness
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Automated Monkeypox Identification from Electronic Medical Records Using Large Language Models - Shenzhen City,

Diyang Xue1, Ye Ye2, Yu Wu1

  • 1Shenzhen Center for Disease Control and Prevention, Shenzhen City, Guangdong Province, China.

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Large language models (LLMs) can automatically identify monkeypox (mpox) cases from electronic medical records. This approach using DeepSeek-R1-14B achieved high accuracy, outperforming traditional methods for early mpox detection.

Keywords:
DeepSeekElectronic Medical RecordsMachine LearningSurveillancempox

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Area of Science:

  • Infectious Diseases
  • Artificial Intelligence
  • Medical Informatics

Background:

  • Monkeypox (mpox) presents with diverse symptoms, complicating early identification.
  • Traditional diagnostic methods may cause delays in mpox detection.
  • Electronic medical record (EMR) free-text data is underutilized for mpox surveillance.

Purpose of the Study:

  • To explore automated mpox identification using large language models (LLMs) on EMR data.
  • To evaluate the performance of LLM-based feature extraction against traditional methods.

Main Methods:

  • Retrospective study of 239 individuals (126 mpox cases, 113 controls).
  • Used DeepSeek-R1-14B LLM to extract clinical features from EMR chief complaints and histories.
  • Trained Naïve Bayes, logistic regression, and random forest classifiers; compared with TF-IDF baseline and Qwen3-14B.

Main Results:

  • LLM-based features (DeepSeek) outperformed TF-IDF and Qwen3-14B.
  • Logistic regression with DeepSeek features achieved AUROC of 0.927 and accuracy of 87.5%.
  • DeepSeek accurately extracted key mpox symptoms (fever, rash, pustules) with 96.1% accuracy.

Conclusions:

  • LLM-based clinical feature extraction is a promising method for automated mpox identification.
  • This approach can support intelligent surveillance and early warning systems for mpox.