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

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Hauptverfasser: Hier, Daniel B., Do, Thanh Son, Obafemi-Ajayi, Tayo
Format: Preprint
Veröffentlicht: 2024
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author Hier, Daniel B.
Do, Thanh Son
Obafemi-Ajayi, Tayo
author_facet Hier, Daniel B.
Do, Thanh Son
Obafemi-Ajayi, Tayo
contents Large language models (LLMs) have shown improved accuracy in phenotype term normalization tasks when augmented with retrievers that suggest candidate normalizations based on term definitions. In this work, we introduce a simplified retriever that enhances LLM accuracy by searching the Human Phenotype Ontology (HPO) for candidate matches using contextual word embeddings from BioBERT without the need for explicit term definitions. Testing this method on terms derived from the clinical synopses of Online Mendelian Inheritance in Man (OMIM), we demonstrate that the normalization accuracy of a state-of-the-art LLM increases from a baseline of 62.3% without augmentation to 90.3% with retriever augmentation. This approach is potentially generalizable to other biomedical term normalization tasks and offers an efficient alternative to more complex retrieval methods.
format Preprint
id arxiv_https___arxiv_org_abs_2409_13744
institution arXiv
publishDate 2024
record_format arxiv
spellingShingle A Simplified Retriever to Improve Accuracy of Phenotype Normalizations by Large Language Models
Hier, Daniel B.
Do, Thanh Son
Obafemi-Ajayi, Tayo
Computation and Language
Artificial Intelligence
Information Retrieval
68
I.2
Large language models (LLMs) have shown improved accuracy in phenotype term normalization tasks when augmented with retrievers that suggest candidate normalizations based on term definitions. In this work, we introduce a simplified retriever that enhances LLM accuracy by searching the Human Phenotype Ontology (HPO) for candidate matches using contextual word embeddings from BioBERT without the need for explicit term definitions. Testing this method on terms derived from the clinical synopses of Online Mendelian Inheritance in Man (OMIM), we demonstrate that the normalization accuracy of a state-of-the-art LLM increases from a baseline of 62.3% without augmentation to 90.3% with retriever augmentation. This approach is potentially generalizable to other biomedical term normalization tasks and offers an efficient alternative to more complex retrieval methods.
title A Simplified Retriever to Improve Accuracy of Phenotype Normalizations by Large Language Models
topic Computation and Language
Artificial Intelligence
Information Retrieval
68
I.2
url https://arxiv.org/abs/2409.13744