Neural Representations of Concepts and Texts for Biomedical Information Retrieval

Information retrieval (IR) methods are an indispensable tool in the current landscape of exponentially increasing textual data, especially on the Web. A typical IR task involves fetching and ranking a set of documents (from a large corpus) in terms of relevance to a user\u27s query, which is often expressed as a short phrase. IR methods are the backbone of modern search engines where additional system-level aspects including fault tolerance, scale, user interfaces, and session maintenance are also addressed. In addition to fetching documents, modern search systems may also identify snippets within the documents that are potentially most relevant to the input query. Furthermore, current systems may also maintain preprocessed structured knowledge derived from textual data as so called knowledge graphs, so certain types of queries that are posed as questions can be parsed as such; a response can be an output of one or more named entities instead of a ranked list of documents (e.g., what diseases are associated with EGFR mutations? ). This refined setup is often termed as question answering (QA) in the IR and natural language processing (NLP) communities. In biomedicine and healthcare, specialized corpora are often at play including research articles by scientists, clinical notes generated by healthcare professionals, consumer forums for specific conditions (e.g., cancer survivors network), and clinical trial protocols (e.g., www.clinicaltrials.gov). Biomedical IR is specialized given the types of queries and the variations in the texts are different from that of general Web documents. For example, scientific articles are more formal with longer sentences but clinical notes tend to have less grammatical conformity and are rife with abbreviations. There is also a mismatch between the vocabulary of consumers and the lingo of domain experts and professionals. Queries are also different and can range from simple phrases (e.g., COVID-19 symptoms ) to more complex implicitly fielded queries (e.g., chemotherapy regimens for stage IV lung cancer patients with ALK mutations ). Hence, developing methods for different configurations (corpus, query type, user type) needs more deliberate attention in biomedical IR. Representations of documents and queries are at the core of IR methods and retrieval methodology involves coming up with these representations and matching queries with documents based on them. Traditional IR systems follow the approach of keyword based indexing of documents (the so called inverted index) and matching query phrases against the document index. It is not difficult to see that this keyword based matching ignores the semantics of texts (synonymy at the lexeme level and entailment at phrase/clause/sentence levels) and this has lead to dimensionality reduction methods such as latent semantic indexing that generally have scale-related concerns; such methods also do not address similarity at the sentence level. Since the resurgence of neural network methods in NLP, the IR field has also moved to incorporate advances in neural networks into current IR methods. This dissertation presents four specific methodological efforts toward improving biomedical IR. Neural methods always begin with dense embeddings for words and concepts to overcome the limitations of one-hot encoding in traditional NLP/IR. In the first effort, we present a new neural pre-training approach to jointly learn word and concept embeddings for downstream use in applications. In the second study, we present a joint neural model for two essential subtasks of information extraction (IE): named entity recognition (NER) and entity normalization (EN). Our method detects biomedical concept phrases in texts and links them to the corresponding semantic types and entity codes. These first two studies provide essential tools to model textual representations as compositions of both surface forms (lexical units) and high level concepts with potential downstream use in QA. In the third effort, we present a document reranking model that can help surface documents that are likely to contain answers (e.g, factoids, lists) to a question in a QA task. The model is essentially a sentence matching neural network that learns the relevance of a candidate answer sentence to the given question parametrized with a bilinear map. In the fourth effort, we present another document reranking approach that is tailored for precision medicine use-cases. It combines neural query-document matching and faceted text summarization. The main distinction of this effort from previous efforts is to pivot from a query manipulation setup to transforming candidate documents into pseudo-queries via neural text summarization. Overall, our contributions constitute nontrivial advances in biomedical IR using neural representations of concepts and texts

Information retrieval and text mining technologies for chemistry

Efficient access to chemical information contained in scientific literature, patents, technical reports, or the web is a pressing need shared by researchers and patent attorneys from different chemical disciplines. Retrieval of important chemical information in most cases starts with finding relevant documents for a particular chemical compound or family. Targeted retrieval of chemical documents is closely connected to the automatic recognition of chemical entities in the text, which commonly involves the extraction of the entire list of chemicals mentioned in a document, including any associated information. In this Review, we provide a comprehensive and in-depth description of fundamental concepts, technical implementations, and current technologies for meeting these information demands. A strong focus is placed on community challenges addressing systems performance, more particularly CHEMDNER and CHEMDNER patents tasks of BioCreative IV and V, respectively. Considering the growing interest in the construction of automatically annotated chemical knowledge bases that integrate chemical information and biological data, cheminformatics approaches for mapping the extracted chemical names into chemical structures and their subsequent annotation together with text mining applications for linking chemistry with biological information are also presented. Finally, future trends and current challenges are highlighted as a roadmap proposal for research in this emerging field.A.V. and M.K. acknowledge funding from the European Community’s Horizon 2020 Program (project reference: 654021 - OpenMinted). M.K. additionally acknowledges the Encomienda MINETAD-CNIO as part of the Plan for the Advancement of Language Technology. O.R. and J.O. thank the Foundation for Applied Medical Research (FIMA), University of Navarra (Pamplona, Spain). This work was partially funded by Consellería de Cultura, Educación e Ordenación Universitaria (Xunta de Galicia), and FEDER (European Union), and the Portuguese Foundation for Science and Technology (FCT) under the scope of the strategic funding of UID/BIO/04469/2013 unit and COMPETE 2020 (POCI-01-0145-FEDER-006684). We thank Iñigo Garciá -Yoldi for useful feedback and discussions during the preparation of the manuscript.info:eu-repo/semantics/publishedVersio

Entity-Oriented Search

This open access book covers all facets of entity-oriented search—where “search” can be interpreted in the broadest sense of information access—from a unified point of view, and provides a coherent and comprehensive overview of the state of the art. It represents the first synthesis of research in this broad and rapidly developing area. Selected topics are discussed in-depth, the goal being to establish fundamental techniques and methods as a basis for future research and development. Additional topics are treated at a survey level only, containing numerous pointers to the relevant literature. A roadmap for future research, based on open issues and challenges identified along the way, rounds out the book. The book is divided into three main parts, sandwiched between introductory and concluding chapters. The first two chapters introduce readers to the basic concepts, provide an overview of entity-oriented search tasks, and present the various types and sources of data that will be used throughout the book. Part I deals with the core task of entity ranking: given a textual query, possibly enriched with additional elements or structural hints, return a ranked list of entities. This core task is examined in a number of different variants, using both structured and unstructured data collections, and numerous query formulations. In turn, Part II is devoted to the role of entities in bridging unstructured and structured data. Part III explores how entities can enable search engines to understand the concepts, meaning, and intent behind the query that the user enters into the search box, and how they can provide rich and focused responses (as opposed to merely a list of documents)—a process known as semantic search. The final chapter concludes the book by discussing the limitations of current approaches, and suggesting directions for future research. Researchers and graduate students are the primary target audience of this book. A general background in information retrieval is sufficient to follow the material, including an understanding of basic probability and statistics concepts as well as a basic knowledge of machine learning concepts and supervised learning algorithms

Search Relevance based on the Semantic Web

In this thesis, we explore the challenge of search relevance in the context of semantic search. Specifically, the notion of semantic relevance can be distinguished from the other types of relevance in Information Retrieval (IR) in terms of employing an underlying semantic model. We propose the emerging Semantic Web data on the Web which is represented in RDF graph structures as an important candidate to become such a semantic model in a search process

Knowledge mining over scientific literature and technical documentation

Abstract This dissertation focuses on the extraction of information implicitly encoded in domain descriptions (technical terminology and related items) and its usage within a restricted-domain question answering system (QA). Since different variants of the same term can be used to refer to the same domain entity, it is necessary to recognize all possible forms of a given term and structure them, so that they can be used in the question answering process. The knowledge about domain descriptions and their mutual relations is leveraged in an extension to an existing QA system, aimed at the technical maintenance manual of a well-known commercial aircraft. The original version of the QA system did not make use of domain descriptions, which are the novelty introduced by the present work. The explicit treatment of domain descriptions provided considerable gains in terms of efficiency, in particular in the process of analysis of the background document collection. Similar techniques were later applied to another domain (biomedical scientific literature), focusing in particular on protein- protein interactions. This dissertation describes in particular: (1) the extraction of domain specific lexical items which refer to entities of the domain; (2) the detection of relationships (like synonymy and hyponymy) among such items, and their organization into a conceptual structure; (3) their usage within a domain restricted question answering system, in order to facilitate the correct identification of relevant answers to a query; (4) the adaptation of the system to another domain, and extension of the basic hypothesis to tasks other than question answering. Zusammenfassung Das Thema dieser Dissertation ist die Extraktion von Information, welche implizit in technischen Terminologien und ähnlichen Ressourcen enthalten ist, sowie ihre Anwendung in einem Antwortextraktionssystem (AE). Da verschiedene Varianten desselben Terms verwendet werden können, um auf den gleichen Begriff zu verweisen, ist die Erkennung und Strukturierung aller möglichen Formen Voraussetzung für den Einsatz in einem AE-System. Die Kenntnisse über Terme und deren Relationen werden in einem AE System angewandt, welches auf dem Wartungshandbuch eines bekannten Verkehrsflugzeug fokussiert. Die ursprüngliche Version des Systems hatte keine explizite Behandlung von Terminologie. Die explizite Behandlung von Terminologie lieferte eine beachtliche Verbesserung der Effizienz des Systems, insbesondere was die Analyse der zugrundeliegenden Dokumentensammlung betrifft. Ähnliche Methodologien wurden später auf einer anderen Domäne angewandt (biomedizinische Literatur), mit einen besonderen Fokus auf Interaktionen zwischen Proteinen. Diese Dissertation beschreibt insbesondere: (1) die Extraktion der Terminologie (2) die Identifikation der Relationen zwischen Termen (wie z.B. Synonymie und Hyponymie) (3) deren Verwendung in einen AE System (4) die Portierung des Systems auf eine andere Domäne

Exploring the topical structure of short text through probability models : from tasks to fundamentals

Recent technological advances have radically changed the way we communicate. Today’s communication has become ubiquitous and it has fostered the need for information that is easier to create, spread and consume. As a consequence, we have experienced the shortening of text messages in mediums ranging from electronic mailing, instant messaging to microblogging. Moreover, the ubiquity and fast-paced nature of these mediums have promoted their use for unthinkable tasks. For instance, reporting real-world events was classically carried out by news reporters, but, nowadays, most interesting events are first disclosed on social networks like Twitter by eyewitness through short text messages. As a result, the exploitation of the thematic content in short text has captured the interest of both research and industry. Topic models are a type of probability models that have traditionally been used to explore this thematic content, a.k.a. topics, in regular text. Most popular topic models fall into the sub-class of LVMs (Latent Variable Models), which include several latent variables at the corpus, document and word levels to summarise the topics at each level. However, classical LVM-based topic models struggle to learn semantically meaningful topics in short text because the lack of co-occurring words within a document hampers the estimation of the local latent variables at the document level. To overcome this limitation, pooling and hierarchical Bayesian strategies that leverage on contextual information have been essential to improve the quality of topics in short text. In this thesis, we study the problem of learning semantically meaningful and predictive representations of text in two distinct phases: • In the first phase, Part I, we investigate the use of LVM-based topic models for the specific task of event detection in Twitter. In this situation, the use of contextual information to pool tweets together comes naturally. Thus, we first extend an existing clustering algorithm for event detection to use the topics learned from pooled tweets. Then, we propose a probability model that integrates topic modelling and clustering to enable the flow of information between both components. • In the second phase, Part II and Part III, we challenge the use of local latent variables in LVMs, specially when the context of short messages is not available. First of all, we study the evaluation of the generalization capabilities of LVMs like PFA (Poisson Factor Analysis) and propose unbiased estimation methods to approximate it. With the most accurate method, we compare the generalization of chordal models without latent variables to that of PFA topic models in short and regular text collections. In summary, we demonstrate that by integrating clustering and topic modelling, the performance of event detection techniques in Twitter is improved due to the interaction between both components. Moreover, we develop several unbiased likelihood estimation methods for assessing the generalization of PFA and we empirically validate their accuracy in different document collections. Finally, we show that we can learn chordal models without latent variables in text through Chordalysis, and that they can be a competitive alternative to classical topic models, specially in short text.Els avenços tecnològics han canviat radicalment la forma que ens comuniquem. Avui en dia, la comunicació és ubiqua, la qual cosa fomenta l’ús de informació fàcil de crear, difondre i consumir. Com a resultat, hem experimentat l’escurçament dels missatges de text en diferents medis de comunicació, des del correu electrònic, a la missatgeria instantània, al microblogging. A més de la ubiqüitat, la naturalesa accelerada d’aquests medis ha promogut el seu ús per tasques fins ara inimaginables. Per exemple, el relat d’esdeveniments era clàssicament dut a terme per periodistes a peu de carrer, però, en l’actualitat, el successos més interessants es publiquen directament en xarxes socials com Twitter a través de missatges curts. Conseqüentment, l’explotació de la informació temàtica del text curt ha atret l'interès tant de la recerca com de la indústria. Els models temàtics (o topic models) són un tipus de models de probabilitat que tradicionalment s’han utilitzat per explotar la informació temàtica en documents de text. Els models més populars pertanyen al subgrup de models amb variables latents, els quals incorporen varies variables a nivell de corpus, document i paraula amb la finalitat de descriure el contingut temàtic a cada nivell. Tanmateix, aquests models tenen dificultats per aprendre la semàntica en documents curts degut a la manca de coocurrència en les paraules d’un mateix document, la qual cosa impedeix una correcta estimació de les variables locals. Per tal de solucionar aquesta limitació, l’agregació de missatges segons el context i l’ús d’estratègies jeràrquiques Bayesianes són essencials per millorar la qualitat dels temes apresos. En aquesta tesi, estudiem en dos fases el problema d’aprenentatge d’estructures semàntiques i predictives en documents de text: En la primera fase, Part I, investiguem l’ús de models temàtics amb variables latents per la detecció d’esdeveniments a Twitter. En aquest escenari, l’ús del context per agregar tweets sorgeix de forma natural. Per això, primer estenem un algorisme de clustering per detectar esdeveniments a partir dels temes apresos en els tweets agregats. I seguidament, proposem un nou model de probabilitat que integra el model temàtic i el de clustering per tal que la informació flueixi entre ambdós components. En la segona fase, Part II i Part III, qüestionem l’ús de variables latents locals en models per a text curt sense context. Primer de tot, estudiem com avaluar la capacitat de generalització d’un model amb variables latents com el PFA (Poisson Factor Analysis) a través del càlcul de la likelihood. Atès que aquest càlcul és computacionalment intractable, proposem diferents mètodes d estimació. Amb el mètode més acurat, comparem la generalització de models chordals sense variables latents amb la del models PFA, tant en text curt com estàndard. En resum, demostrem que integrant clustering i models temàtics, el rendiment de les tècniques de detecció d’esdeveniments a Twitter millora degut a la interacció entre ambdós components. A més a més, desenvolupem diferents mètodes d’estimació per avaluar la capacitat generalizadora dels models PFA i validem empíricament la seva exactitud en diverses col·leccions de text. Finalment, mostrem que podem aprendre models chordals sense variables latents en text a través de Chordalysis i que aquests models poden ser una bona alternativa als models temàtics clàssics, especialment en text curt.Postprint (published version

Doctor of Philosophy

dissertationElectronic Health Records (EHRs) provide a wealth of information for secondary uses. Methods are developed to improve usefulness of free text query and text processing and demonstrate advantages to using these methods for clinical research, specifically cohort identification and enhancement. Cohort identification is a critical early step in clinical research. Problems may arise when too few patients are identified, or the cohort consists of a nonrepresentative sample. Methods of improving query formation through query expansion are described. Inclusion of free text search in addition to structured data search is investigated to determine the incremental improvement of adding unstructured text search over structured data search alone. Query expansion using topic- and synonym-based expansion improved information retrieval performance. An ensemble method was not successful. The addition of free text search compared to structured data search alone demonstrated increased cohort size in all cases, with dramatic increases in some. Representation of patients in subpopulations that may have been underrepresented otherwise is also shown. We demonstrate clinical impact by showing that a serious clinical condition, scleroderma renal crisis, can be predicted by adding free text search. A novel information extraction algorithm is developed and evaluated (Regular Expression Discovery for Extraction, or REDEx) for cohort enrichment. The REDEx algorithm is demonstrated to accurately extract information from free text clinical iv narratives. Temporal expressions as well as bodyweight-related measures are extracted. Additional patients and additional measurement occurrences are identified using these extracted values that were not identifiable through structured data alone. The REDEx algorithm transfers the burden of machine learning training from annotators to domain experts. We developed automated query expansion methods that greatly improve performance of keyword-based information retrieval. We also developed NLP methods for unstructured data and demonstrate that cohort size can be greatly increased, a more complete population can be identified, and important clinical conditions can be detected that are often missed otherwise. We found a much more complete representation of patients can be obtained. We also developed a novel machine learning algorithm for information extraction, REDEx, that efficiently extracts clinical values from unstructured clinical text, adding additional information and observations over what is available in structured text alone

Semi-Supervised Learning For Identifying Opinions In Web Content

Thesis (Ph.D.) - Indiana University, Information Science, 2011Opinions published on the World Wide Web (Web) offer opportunities for detecting personal attitudes regarding topics, products, and services. The opinion detection literature indicates that both a large body of opinions and a wide variety of opinion features are essential for capturing subtle opinion information. Although a large amount of opinion-labeled data is preferable for opinion detection systems, opinion-labeled data is often limited, especially at sub-document levels, and manual annotation is tedious, expensive and error-prone. This shortage of opinion-labeled data is less challenging in some domains (e.g., movie reviews) than in others (e.g., blog posts). While a simple method for improving accuracy in challenging domains is to borrow opinion-labeled data from a non-target data domain, this approach often fails because of the domain transfer problem: Opinion detection strategies designed for one data domain generally do not perform well in another domain. However, while it is difficult to obtain opinion-labeled data, unlabeled user-generated opinion data are readily available. Semi-supervised learning (SSL) requires only limited labeled data to automatically label unlabeled data and has achieved promising results in various natural language processing (NLP) tasks, including traditional topic classification; but SSL has been applied in only a few opinion detection studies. This study investigates application of four different SSL algorithms in three types of Web content: edited news articles, semi-structured movie reviews, and the informal and unstructured content of the blogosphere. SSL algorithms are also evaluated for their effectiveness in sparse data situations and domain adaptation. Research findings suggest that, when there is limited labeled data, SSL is a promising approach for opinion detection in Web content. Although the contributions of SSL varied across data domains, significant improvement was demonstrated for the most challenging data domain--the blogosphere--when a domain transfer-based SSL strategy was implemented

Semi-automated Ontology Generation for Biocuration and Semantic Search

Background: In the life sciences, the amount of literature and experimental data grows at a tremendous rate. In order to effectively access and integrate these data, biomedical ontologies – controlled, hierarchical vocabularies – are being developed. Creating and maintaining such ontologies is a difficult, labour-intensive, manual process. Many computational methods which can support ontology construction have been proposed in the past. However, good, validated systems are largely missing. Motivation: The biocuration community plays a central role in the development of ontologies. Any method that can support their efforts has the potential to have a huge impact in the life sciences. Recently, a number of semantic search engines were created that make use of biomedical ontologies for document retrieval. To transfer the technology to other knowledge domains, suitable ontologies need to be created. One area where ontologies may prove particularly useful is the search for alternative methods to animal testing, an area where comprehensive search is of special interest to determine the availability or unavailability of alternative methods. Results: The Dresden Ontology Generator for Directed Acyclic Graphs (DOG4DAG) developed in this thesis is a system which supports the creation and extension of ontologies by semi-automatically generating terms, definitions, and parent-child relations from text in PubMed, the web, and PDF repositories. The system is seamlessly integrated into OBO-Edit and Protégé, two widely used ontology editors in the life sciences. DOG4DAG generates terms by identifying statistically significant noun-phrases in text. For definitions and parent-child relations it employs pattern-based web searches. Each generation step has been systematically evaluated using manually validated benchmarks. The term generation leads to high quality terms also found in manually created ontologies. Definitions can be retrieved for up to 78% of terms, child ancestor relations for up to 54%. No other validated system exists that achieves comparable results. To improve the search for information on alternative methods to animal testing an ontology has been developed that contains 17,151 terms of which 10% were newly created and 90% were re-used from existing resources. This ontology is the core of Go3R, the first semantic search engine in this field. When a user performs a search query with Go3R, the search engine expands this request using the structure and terminology of the ontology. The machine classification employed in Go3R is capable of distinguishing documents related to alternative methods from those which are not with an F-measure of 90% on a manual benchmark. Approximately 200,000 of the 19 million documents listed in PubMed were identified as relevant, either because a specific term was contained or due to the automatic classification. The Go3R search engine is available on-line under www.Go3R.org