The objective of BioCreative8 Track 3 is to extract phenotypic key medical findings embedded within EHR texts and subsequently normalize these findings to their Human Phenotype Ontology (HPO) terms. However, the presence of diverse surface forms in phenotypic findings makes it challenging to accurately normalize them to the correct HPO terms. To address this challenge, we explored various models for named entity recognition and implemented data augmentation techniques such as synonym marginalization to enhance the normalization step. Our pipeline resulted in an exact extraction and normalization F1 score 2.6\% higher than the mean score of all submissions received in response to the challenge. Furthermore, in terms of the normalization F1 score, our approach surpassed the average performance by 1.9\%. These findings contribute to the advancement of automated medical data extraction and normalization techniques, showcasing potential pathways for future research and application in the biomedical domain.

As the immense opportunities enabled by large language models become more apparent, NLP systems will be increasingly expected to excel in real-world settings. However, in many instances, powerful models alone will not yield translational NLP solutions, especially if the formulated problem is not well aligned with the real-world task. In this work, we study the case of UMLS vocabulary insertion, an important real-world task in which hundreds of thousands of new terms, referred to as atoms, are added to the UMLS, one of the most comprehensive open-source biomedical knowledge bases. Previous work aimed to develop an automated NLP system to make this time-consuming, costly, and error-prone task more efficient. Nevertheless, practical progress in this direction has been difficult to achieve due to a problem formulation and evaluation gap between research output and the real-world task. In order to address this gap, we introduce a new formulation for UMLS vocabulary insertion which mirrors the real-world task, datasets which faithfully represent it and several strong baselines we developed through re-purposing existing solutions. Additionally, we propose an effective rule-enhanced biomedical language model which enables important new model behavior, outperforms all strong baselines and provides measurable qualitative improvements to editors who carry out the UVI task. We hope this case study provides insight into the considerable importance of problem formulation for the success of translational NLP solutions.

Medical term normalization consists in mapping a piece of text to a large number of output classes. Given the small size of the annotated datasets and the extremely long tail distribution of the concepts, it is of utmost importance to develop models that are capable to generalize to scarce or unseen concepts. An important attribute of most target ontologies is their hierarchical structure. In this paper we introduce a simple and effective learning strategy that leverages such information to enhance the generalizability of both discriminative and generative models. The evaluation shows that the proposed strategy produces state-of-the-art performance on seen concepts and consistent improvements on unseen ones, allowing also for efficient zero-shot knowledge transfer across text typologies and datasets.

This work introduces BioLORD, a new pre-training strategy for producing meaningful representations for clinical sentences and biomedical concepts. State-of-the-art methodologies operate by maximizing the similarity in representation of names referring to the same concept, and preventing collapse through contrastive learning. However, because biomedical names are not always self-explanatory, it sometimes results in non-semantic representations. BioLORD overcomes this issue by grounding its concept representations using definitions, as well as short descriptions derived from a multi-relational knowledge graph consisting of biomedical ontologies. Thanks to this grounding, our model produces more semantic concept representations that match more closely the hierarchical structure of ontologies. BioLORD establishes a new state of the art for text similarity on both clinical sentences (MedSTS) and biomedical concepts (MayoSRS).

Biomedical entity linking is the task of linking entity mentions in a biomedical document to referent entities in a knowledge base. Recently, many BERT-based models have been introduced for the task. While these models have achieved competitive results on many datasets, they are computationally expensive and contain about 110M parameters. Little is known about the factors contributing to their impressive performance and whether the over-parameterization is needed. In this work, we shed some light on the inner working mechanisms of these large BERT-based models. Through a set of probing experiments, we have found that the entity linking performance only changes slightly when the input word order is shuffled or when the attention scope is limited to a fixed window size. From these observations, we propose an efficient convolutional neural network with residual connections for biomedical entity linking. Because of the sparse connectivity and weight sharing properties, our model has a small number of parameters and is highly efficient. On five public datasets, our model achieves comparable or even better linking accuracy than the state-of-the-art BERT-based models while having about 60 times fewer parameters.