ChatGPT has drawn considerable attention from both the general public and domain experts with its remarkable text generation capabilities. This has subsequently led to the emergence of diverse applications in the field of biomedicine and health. In this work, we examine the diverse applications of large language models (LLMs), such as ChatGPT, in biomedicine and health. Specifically we explore the areas of biomedical information retrieval, question answering, medical text summarization, information extraction, and medical education, and investigate whether LLMs possess the transformative power to revolutionize these tasks or whether the distinct complexities of biomedical domain presents unique challenges. Following an extensive literature survey, we find that significant advances have been made in the field of text generation tasks, surpassing the previous state-of-the-art methods. For other applications, the advances have been modest. Overall, LLMs have not yet revolutionized biomedicine, but recent rapid progress indicates that such methods hold great potential to provide valuable means for accelerating discovery and improving health. We also find that the use of LLMs, like ChatGPT, in the fields of biomedicine and health entails various risks and challenges, including fabricated information in its generated responses, as well as legal and privacy concerns associated with sensitive patient data. We believe this survey can provide a comprehensive and timely overview to biomedical researchers and healthcare practitioners on the opportunities and challenges associated with using ChatGPT and other LLMs for transforming biomedicine and health.

MOTIVATION: Information retrieval (IR) is essential in biomedical knowledge acquisition and clinical decision support. While recent progress has shown that language model encoders perform better semantic retrieval, training such models requires abundant query-article annotations that are difficult to obtain in biomedicine. As a result, most biomedical IR systems only conduct lexical matching. In response, we introduce MedCPT, a first-of-its-kind Contrastively Pre-trained Transformer model for zero-shot semantic IR in biomedicine. RESULTS: To train MedCPT, we collected an unprecedented scale of 255 million user click logs from PubMed. With such data, we use contrastive learning to train a pair of closely integrated retriever and re-ranker. Experimental results show that MedCPT sets new state-of-the-art performance on six biomedical IR tasks, outperforming various baselines including much larger models, such as GPT-3-sized cpt-text-XL. In addition, MedCPT also generates better biomedical article and sentence representations for semantic evaluations. As such, MedCPT can be readily applied to various real-world biomedical IR tasks. AVAILABILITY AND IMPLEMENTATION: The MedCPT code and model are available at https://github.com/ncbi/MedCPT.

OBJECTIVE: A significant number of recent articles in PubMed have full text available in PubMed Central®, and the availability of full texts has been consistently growing. However, it is not currently possible for a user to simultaneously query the contents of both databases and receive a single integrated search result. In this study, we investigate how to score full text articles given a multitoken query and how to combine those full text article scores with scores originating from abstracts and achieve an overall improved retrieval performance. MATERIALS AND METHODS: For scoring full text articles, we propose a method to combine information coming from different sections by converting the traditionally used BM25 scores into log odds ratio scores which can be treated uniformly. We further propose a method that successfully combines scores from two heterogenous retrieval sources - full text articles and abstract only articles - by balancing the contributions of their respective scores through a probabilistic transformation. We use PubMed click data that consists of queries sampled from PubMed user logs along with a subset of retrieved and clicked documents to train the probabilistic functions and to evaluate retrieval effectiveness. RESULTS AND CONCLUSIONS: Random ranking achieves 0.579 MAP score on our PubMed click data. BM25 ranking on PubMed abstracts improves the MAP by 10.6%. For full text documents, experiments confirm that BM25 section scores are of different value depending on the section type and are not directly comparable. Naïvely using the body text of articles along with abstract text degrades the overall quality of the search. The proposed log odds ratio scores normalize and combine the contributions of occurrences of query tokens in different sections. By including full text where available, we gain another 0.67%, or 7% relative improvement over abstract alone. We find an advantage in the more accurate estimate of the value of BM25 scores depending on the section from which they were produced. Taking the sum of top three section scores performs the best.

MOTIVATION: Clustering methods can be useful for automatically grouping documents into meaningful clusters, improving human comprehension of a document collection. Although there are clustering algorithms that can achieve the goal for relatively large document collections, they do not always work well for small and homogenous datasets. METHODS: In this article, we present Retro-a novel clustering algorithm that extracts meaningful clusters along with concise and descriptive titles from small and homogenous document collections. Unlike common clustering approaches, our algorithm predicts cluster titles before clustering. It relies on the hypergeometric distribution model to discover key phrases, and generates candidate clusters by assigning documents to these phrases. Further, the statistical significance of candidate clusters is tested using supervised learning methods, and a multiple testing correction technique is used to control the overall quality of clustering. RESULTS: We test our system on five disease datasets from OMIM(®) and evaluate the results based on MeSH(®) term assignments. We further compare our method with several baseline and state-of-the-art methods, including K-means, expectation maximization, latent Dirichlet allocation-based clustering, Lingo, OPTIMSRC and adapted GK-means. The experimental results on the 20-Newsgroup and ODP-239 collections demonstrate that our method is successful at extracting significant clusters and is superior to existing methods in terms of quality of clusters. Finally, we apply our system to a collection of 6248 topical sets from the HomoloGene(®) database, a resource in PubMed(®). Empirical evaluation confirms the method is useful for small homogenous datasets in producing meaningful clusters with descriptive titles. AVAILABILITY AND IMPLEMENTATION: A web-based demonstration of the algorithm applied to a collection of sets from the HomoloGene database is available at http://www.ncbi.nlm.nih.gov/CBBresearch/Wilbur/IRET/CLUSTERING_HOMOLOGENE/index.html. CONTACT: [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Log analysis shows that PubMed users frequently use author names in queries for retrieving scientific literature. However, author name ambiguity may lead to irrelevant retrieval results. To improve the PubMed user experience with author name queries, we designed an author name disambiguation system consisting of similarity estimation and agglomerative clustering. A machine-learning method was employed to score the features for disambiguating a pair of papers with ambiguous names. These features enable the computation of pairwise similarity scores to estimate the probability of a pair of papers belonging to the same author, which drives an agglomerative clustering algorithm regulated by 2 factors: name compatibility and probability level. With transitivity violation correction, high precision author clustering is achieved by focusing on minimizing false-positive pairing. Disambiguation performance is evaluated with manual verification of random samples of pairs from clustering results. When compared with a state-of-the-art system, our evaluation shows that among all the pairs the lumping error rate drops from 10.1% to 2.2% for our system, while the splitting error rises from 1.8% to 7.7%. This results in an overall error rate of 9.9%, compared with 11.9% for the state-of-the-art method. Other evaluations based on gold standard data also show the increase in accuracy of our clustering. We attribute the performance improvement to the machine-learning method driven by a large-scale training set and the clustering algorithm regulated by a name compatibility scheme preferring precision. With integration of the author name disambiguation system into the PubMed search engine, the overall click-through-rate of PubMed users on author name query results improved from 34.9% to 36.9%.

Given prior human judgments of the condition of an object it is possible to use these judgments to make a maximal likelihood estimate of what future human judgments of the condition of that object will be. However, if one has a reasonably large collection of similar objects and the prior human judgments of a number of judges regarding the condition of each object in the collection, then it is possible to make predictions of future human judgments for the whole collection that are superior to the simple maximal likelihood estimate for each object in isolation. This is possible because the multiple judgments over the collection allow an analysis to determine the relative value of a judge as compared with the other judges in the group and this value can be used to augment or diminish a particular judge's influence in predicting future judgments. Here we study and compare five different methods for making such improved predictions and show that each is superior to simple maximal likelihood estimates.

Given prior human judgments of the condition of an object it is possible to use these judgments to make a maximal likelihood estimate of what future human judgments of the condition of that object will be. However, if one has a reasonably large collection of similar objects and the prior human judgments of a number of judges regarding the condition of each object in the collection, then it is possible to make predictions of future human judgments for the whole collection that are superior to the simple maximal likelihood estimate for each object in isolation. This is possible because the multiple judgments over the collection allow an analysis to determine the relative value of a judge as compared with the other judges in the group and this value can be used to augment or diminish a particular judge's influence in predicting future judgments. Here we study and compare five different methods for making such improved predictions and show that each is superior to simple maximal likelihood estimates.

This paper investigates the effectiveness of using MeSH(®) in PubMed through its automatic query expansion process: Automatic Term Mapping (ATM). We run Boolean searches based on a collection of 64 topics and about 160,000 MEDLINE(®) citations used in the 2006 and 2007 TREC Genomics Tracks. For each topic, we first automatically construct a query by selecting keywords from the question. Next, each query is expanded by ATM, which assigns different search tags to terms in the query. Three search tags: [MeSH Terms], [Text Words], and [All Fields] are chosen to be studied after expansion because they all make use of the MeSH field of indexed MEDLINE citations. Furthermore, we characterize the two different mechanisms by which the MeSH field is used. Retrieval results using MeSH after expansion are compared to those solely based on the words in MEDLINE title and abstracts. The aggregate retrieval performance is assessed using both F-measure and mean rank precision. Experimental results suggest that query expansion using MeSH in PubMed can generally improve retrieval performance, but the improvement may not affect end PubMed users in realistic situations.

For the purposes of classification it is common to represent a document as a bag of words. Such a representation consists of the individual terms making up the document together with the number of times each term appears in the document. All classification methods make use of the terms. It is common to also make use of the local term frequencies at the price of some added complication in the model. Examples are the naïve Bayes multinomial model (MM), the Dirichlet compound multinomial model (DCM) and the Exponential-Family Approximation of the DCM (EDCM), as well as support vector machines (SVM). Although it is usually claimed that incorporating local word frequency in a document improves text classification performance, we here test whether such claims are true or not. In this paper we show experimentally that simplified forms of the MM, EDCM, and SVM models which ignore the frequency of each word in a document perform about at the same level as MM, DCM, EDCM and SVM models which incorporate local term frequency. We also present a new form of the naïve Bayes multivariate Bernoulli model (MBM) which is able to make use of local term frequency and show again that it offers no significant advantage over the plain MBM. We conclude that word burstiness is so strong that additional occurrences of a word essentially add no useful information to a classifier.

This paper evaluates the retrieval effectiveness of relevance ranking strategies on a collection of 55 queries and about 160,000 MEDLINE((R)) citations used in the 2006 and 2007 Text Retrieval Conference (TREC) Genomics Tracks. The authors study two relevance ranking strategies: term frequency-inverse document frequency (TF-IDF) weighting and sentence-level co-occurrence, and examine their ability to rank retrieved MEDLINE documents given user queries. Furthermore, the authors use the reverse chronological order-PubMed's default display option-as a baseline for comparison. Retrieval effectiveness is assessed using both mean average precision and mean rank precision. Experimental results show that retrievals based on the two strategies had improved performance over the baseline performance, and that TF-IDF weighting is more effective in retrieving relevant documents based on the comparison between the two strategies.

indicates that many such queries are meaningful phrases, rather than simple collections of terms. In this study, we examine whether or not it makes a difference, in terms of retrieval quality, if such queries are interpreted as a phrase or as a conjunction of query terms. And, if it does, what is the optimal way of searching with such queries. To address the question, we developed an automated retrieval evaluation method, based on machine learning techniques, that enables us to evaluate and compare various retrieval outcomes. We show that the class of records that contain all the search terms, but not the phrase, qualitatively differs from the class of records containing the phrase. We also show that the difference is systematic, depending on the proximity of query terms to each other within the record. Based on these results, one can establish the best retrieval order for the records. Our findings are consistent with studies in proximity searching.

BACKGROUND: The rapid growth of biomedical literature presents challenges for automatic text processing, and one of the challenges is abbreviation identification. The presence of unrecognized abbreviations in text hinders indexing algorithms and adversely affects information retrieval and extraction. Automatic abbreviation definition identification can help resolve these issues. However, abbreviations and their definitions identified by an automatic process are of uncertain validity. Due to the size of databases such as MEDLINE only a small fraction of abbreviation-definition pairs can be examined manually. An automatic way to estimate the accuracy of abbreviation-definition pairs extracted from text is needed. In this paper we propose an abbreviation definition identification algorithm that employs a variety of strategies to identify the most probable abbreviation definition. In addition our algorithm produces an accuracy estimate, pseudo-precision, for each strategy without using a human-judged gold standard. The pseudo-precisions determine the order in which the algorithm applies the strategies in seeking to identify the definition of an abbreviation. RESULTS: On the Medstract corpus our algorithm produced 97% precision and 85% recall which is higher than previously reported results. We also annotated 1250 randomly selected MEDLINE records as a gold standard. On this set we achieved 96.5% precision and 83.2% recall. This compares favourably with the well known Schwartz and Hearst algorithm. CONCLUSION: We developed an algorithm for abbreviation identification that uses a variety of strategies to identify the most probable definition for an abbreviation and also produces an estimated accuracy of the result. This process is purely automatic.

OBJECTIVES: The aim of this study was to improve naïve Bayes prediction of Medical Subject Headings (MeSH) assignment to documents using optimal training sets found by an active learning inspired method. DESIGN: The authors selected 20 MeSH terms whose occurrences cover a range of frequencies. For each MeSH term, they found an optimal training set, a subset of the whole training set. An optimal training set consists of all documents including a given MeSH term (C1 class) and those documents not including a given MeSH term (C(-1) class) that are closest to the C1 class. These small sets were used to predict MeSH assignments in the MEDLINE database. MEASUREMENTS: Average precision was used to compare MeSH assignment using the naïve Bayes learner trained on the whole training set, optimal sets, and random sets. The authors compared 95% lower confidence limits of average precisions of naïve Bayes with upper bounds for average precisions of a K-nearest neighbor (KNN) classifier. RESULTS: For all 20 MeSH assignments, the optimal training sets produced nearly 200% improvement over use of the whole training sets. In 17 of those MeSH assignments, naïve Bayes using optimal training sets was statistically better than a KNN. In 15 of those, optimal training sets performed better than optimized feature selection. Overall naïve Bayes averaged 14% better than a KNN for all 20 MeSH assignments. Using these optimal sets with another classifier, C-modified least squares (CMLS), produced an additional 6% improvement over naïve Bayes. CONCLUSION: Using a smaller optimal training set greatly improved learning with naïve Bayes. The performance is superior to a KNN. The small training set can be used with other sophisticated learning methods, such as CMLS, where using the whole training set would not be feasible.

Abbreviations and acronyms are widely used in the biomedical literature and many of them represent important biomedical concepts. Because many abbreviations are ambiguous (e.g., CAT denotes both chloramphenicol acetyl transferase and computed axial tomography , depending on the context), recognizing the full form associated with each abbreviation is in most cases equivalent to identifying the meaning of the abbreviation. This, in turn, allows us to perform more accurate natural language processing, information extraction, and retrieval. In this study, we have developed supervised approaches to identifying the full forms of ambiguous abbreviations within the context they appear. We first automatically assigned multiple possible full forms for each abbreviation; we then treated the in-context full-form prediction for each specific abbreviation occurrence as a case of word-sense disambiguation. We generated automatically a dictionary of all possible full forms for each abbreviation. We applied supervised machine-learning algorithms for disambiguation. Because some of the links between abbreviations and their corresponding full forms are explicitly given in the text and can be recovered automatically, we can use these explicit links to automatically provide training data for disambiguating the abbreviations that are not linked to a full form within a text. We evaluated our methods on over 150 thousand abstracts and obtain for coverage and precision results of 82% and 92%, respectively, when performed as tenfold cross-validation, and 79% and 80%, respectively, when evaluated against an external set of abstracts in which the abbreviations are not defined.

Biomedical abbreviations and acronyms are widely used in biomedical literature. Since many abbreviations represent important content in biomedical literature, information retrieval and extraction benefits from identifying the meanings of biomedical abbreviations. Since many abbreviations are ambiguous, it would be important to map abbreviations to their full forms, which ultimately represent the meanings of the abbreviations. In this study, we present a novel unsupervised method that applies MEDLINE records as a knowledge source for disambiguating abbreviations in full-text biomedical journal articles. We first automatically generated from MEDLINE records a knowledge source or dictionary of abbreviation-full pairs. We then trained on MEDLINE records and predicted the full forms of abbreviations in full-text journal articles by applying supervised machine-learning algorithms in an unsupervised fashion. We report up to 92% prediction precision and up to 91% coverage.

An important problem in the indexing of natural language text is how to identify those words and phrases that reflect the content of the text. In general, automatic indexing has dealt with this problem by removing instances of a few hundred common words known as stop words, and treating the remaining words as though they were content bearing. This approach is acceptable for some applications such as statistical estimates of the similarity of queries and documents for the purpose of document retrieval. However, when the indexing terms are to be examined by a human as a means of accessing the literature, it greatly improves efficiency if most of the noncontent-bearing words and phrases can be eliminated from the indexing. Here we present three statistical techniques for identifying content-bearing phrases within a natural language database. We demonstrate the effectiveness of the methods on test data, and show how all three methods can be combined to produce a single improved method.

PURPOSE: The authors study the extraction of useful phrases from a natural language database by statistical methods. The aim is to leverage human effort by providing preprocessed phrase lists with a high percentage of useful material. METHOD: The approach is to develop six different scoring methods that are based on different aspects of phrase occurrence. The emphasis here is not on lexical information or syntactic structure but rather on the statistical properties of word pairs and triples that can be obtained from a large database. MEASUREMENTS: The Unified Medical Language System (UMLS) incorporates a large list of humanly acceptable phrases in the medical field as a part of its structure. The authors use this list of phrases as a gold standard for validating their methods. A good method is one that ranks the UMLS phrases high among all phrases studied. Measurements are 11-point average precision values and precision-recall curves based on the rankings. RESULT: The authors find of six different scoring methods that each proves effective in identifying UMLS quality phrases in a large subset of MEDLINE. These methods are applicable both to word pairs and word triples. All six methods are optimally combined to produce composite scoring methods that are more effective than any single method. The quality of the composite methods appears sufficient to support the automatic placement of hyperlinks in text at the site of highly ranked phrases. CONCLUSION: Statistical scoring methods provide a promising approach to the extraction of useful phrases from a natural language database for the purpose of indexing or providing hyperlinks in text.