Boosting Phenotype Normalization Accuracy

Boosting Phenotype Normalization Accuracy

A Simplified Retrieval Approach for Enhanced LLM Performance

This research introduces a simplified retriever that improves LLM accuracy in medical phenotype normalization without requiring explicit term definitions.

  • Uses contextual word embeddings from BioBERT to find candidate matches
  • Searches the Human Phenotype Ontology (HPO) more efficiently
  • Demonstrates improved accuracy over standard LLM approaches
  • Streamlines the normalization process with fewer computational resources

Why it matters: Accurate phenotype normalization is critical for medical diagnosis, research, and treatment planning. This simplified approach makes implementation more practical in clinical settings while maintaining high accuracy.

A Simplified Retriever to Improve Accuracy of Phenotype Normalizations by Large Language Models

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