Development of a text mining approach to disease network discovery

Scientific literature is one of the major sources of knowledge for systems biology, in the form of papers, patents and other types of written reports. Text mining methods aim at automatically extracting relevant information from the literature. The hypothesis of this thesis was that biological systems could be elucidated by the development of text mining solutions that can automatically extract relevant information from documents. The first objective consisted in developing software components to recognize biomedical entities in text, which is the first step to generate a network about a biological system. To this end, a machine learning solution was developed, which can be trained for specific biological entities using an annotated dataset, obtaining high-quality results. Additionally, a rule-based solution was developed, which can be easily adapted to various types of entities. The second objective consisted in developing an automatic approach to link the recognized entities to a reference knowledge base. A solution based on the PageRank algorithm was developed in order to match the entities to the concepts that most contribute to the overall coherence. The third objective consisted in automatically extracting relations between entities, to generate knowledge graphs about biological systems. Due to the lack of annotated datasets available for this task, distant supervision was employed to train a relation classifier on a corpus of documents and a knowledge base. The applicability of this approach was demonstrated in two case studies: microRNAgene relations for cystic fibrosis, obtaining a network of 27 relations using the abstracts of 51 recently published papers; and cell-cytokine relations for tolerogenic cell therapies, obtaining a network of 647 relations from 3264 abstracts. Through a manual evaluation, the information contained in these networks was determined to be relevant. Additionally, a solution combining deep learning techniques with ontology information was developed, to take advantage of the domain knowledge provided by ontologies. This thesis contributed with several solutions that demonstrate the usefulness of text mining methods to systems biology by extracting domain-specific information from the literature. These solutions make it easier to integrate various areas of research, leading to a better understanding of biological systems

Data-efficient methods for information extraction

Strukturierte Wissensrepräsentationssysteme wie Wissensdatenbanken oder Wissensgraphen bieten Einblicke in Entitäten und Beziehungen zwischen diesen Entitäten in der realen Welt. Solche Wissensrepräsentationssysteme können in verschiedenen Anwendungen der natürlichen Sprachverarbeitung eingesetzt werden, z. B. bei der semantischen Suche, der Beantwortung von Fragen und der Textzusammenfassung. Es ist nicht praktikabel und ineffizient, diese Wissensrepräsentationssysteme manuell zu befüllen. In dieser Arbeit entwickeln wir Methoden, um automatisch benannte Entitäten und Beziehungen zwischen den Entitäten aus Klartext zu extrahieren. Unsere Methoden können daher verwendet werden, um entweder die bestehenden unvollständigen Wissensrepräsentationssysteme zu vervollständigen oder ein neues strukturiertes Wissensrepräsentationssystem von Grund auf zu erstellen. Im Gegensatz zu den gängigen überwachten Methoden zur Informationsextraktion konzentrieren sich unsere Methoden auf das Szenario mit wenigen Daten und erfordern keine große Menge an kommentierten Daten. Im ersten Teil der Arbeit haben wir uns auf das Problem der Erkennung von benannten Entitäten konzentriert. Wir haben an der gemeinsamen Aufgabe von Bacteria Biotope 2019 teilgenommen. Die gemeinsame Aufgabe besteht darin, biomedizinische Entitätserwähnungen zu erkennen und zu normalisieren. Unser linguistically informed Named-Entity-Recognition-System besteht aus einem Deep-Learning-basierten Modell, das sowohl verschachtelte als auch flache Entitäten extrahieren kann; unser Modell verwendet mehrere linguistische Merkmale und zusätzliche Trainingsziele, um effizientes Lernen in datenarmen Szenarien zu ermöglichen. Unser System zur Entitätsnormalisierung verwendet String-Match, Fuzzy-Suche und semantische Suche, um die extrahierten benannten Entitäten mit den biomedizinischen Datenbanken zu verknüpfen. Unser System zur Erkennung von benannten Entitäten und zur Entitätsnormalisierung erreichte die niedrigste Slot-Fehlerrate von 0,715 und belegte den ersten Platz in der gemeinsamen Aufgabe. Wir haben auch an zwei gemeinsamen Aufgaben teilgenommen: Adverse Drug Effect Span Detection (Englisch) und Profession Span Detection (Spanisch); beide Aufgaben sammeln Daten von der Social Media Plattform Twitter. Wir haben ein Named-Entity-Recognition-Modell entwickelt, das die Eingabedarstellung des Modells durch das Stapeln heterogener Einbettungen aus verschiedenen Domänen verbessern kann; unsere empirischen Ergebnisse zeigen komplementäres Lernen aus diesen heterogenen Einbettungen. Unser Beitrag belegte den 3. Platz in den beiden gemeinsamen Aufgaben. Im zweiten Teil der Arbeit untersuchten wir Strategien zur Erweiterung synthetischer Daten, um ressourcenarme Informationsextraktion in spezialisierten Domänen zu ermöglichen. Insbesondere haben wir backtranslation an die Aufgabe der Erkennung von benannten Entitäten auf Token-Ebene und der Extraktion von Beziehungen auf Satzebene angepasst. Wir zeigen, dass die Rückübersetzung sprachlich vielfältige und grammatikalisch kohärente synthetische Sätze erzeugen kann und als wettbewerbsfähige Erweiterungsstrategie für die Aufgaben der Erkennung von benannten Entitäten und der Extraktion von Beziehungen dient. Bei den meisten realen Aufgaben zur Extraktion von Beziehungen stehen keine kommentierten Daten zur Verfügung, jedoch ist häufig ein großer unkommentierter Textkorpus vorhanden. Bootstrapping-Methoden zur Beziehungsextraktion können mit diesem großen Korpus arbeiten, da sie nur eine Handvoll Startinstanzen benötigen. Bootstrapping-Methoden neigen jedoch dazu, im Laufe der Zeit Rauschen zu akkumulieren (bekannt als semantische Drift), und dieses Phänomen hat einen drastischen negativen Einfluss auf die endgültige Genauigkeit der Extraktionen. Wir entwickeln zwei Methoden zur Einschränkung des Bootstrapping-Prozesses, um die semantische Drift bei der Extraktion von Beziehungen zu minimieren. Unsere Methoden nutzen die Graphentheorie und vortrainierte Sprachmodelle, um verrauschte Extraktionsmuster explizit zu identifizieren und zu entfernen. Wir berichten über die experimentellen Ergebnisse auf dem TACRED-Datensatz für vier Relationen. Im letzten Teil der Arbeit demonstrieren wir die Anwendung der Domänenanpassung auf die anspruchsvolle Aufgabe der mehrsprachigen Akronymextraktion. Unsere Experimente zeigen, dass die Domänenanpassung die Akronymextraktion in wissenschaftlichen und juristischen Bereichen in sechs Sprachen verbessern kann, darunter auch Sprachen mit geringen Ressourcen wie Persisch und Vietnamesisch.The structured knowledge representation systems such as knowledge base or knowledge graph can provide insights regarding entities and relationship(s) among these entities in the real-world, such knowledge representation systems can be employed in various natural language processing applications such as semantic search, question answering and text summarization. It is infeasible and inefficient to manually populate these knowledge representation systems. In this work, we develop methods to automatically extract named entities and relationships among the entities from plain text and hence our methods can be used to either complete the existing incomplete knowledge representation systems to create a new structured knowledge representation system from scratch. Unlike mainstream supervised methods for information extraction, our methods focus on the low-data scenario and do not require a large amount of annotated data. In the first part of the thesis, we focused on the problem of named entity recognition. We participated in the shared task of Bacteria Biotope 2019, the shared task consists of recognizing and normalizing the biomedical entity mentions. Our linguistically informed named entity recognition system consists of a deep learning based model which can extract both nested and flat entities; our model employed several linguistic features and auxiliary training objectives to enable efficient learning in data-scarce scenarios. Our entity normalization system employed string match, fuzzy search and semantic search to link the extracted named entities to the biomedical databases. Our named entity recognition and entity normalization system achieved the lowest slot error rate of 0.715 and ranked first in the shared task. We also participated in two shared tasks of Adverse Drug Effect Span detection (English) and Profession Span Detection (Spanish); both of these tasks collect data from the social media platform Twitter. We developed a named entity recognition model which can improve the input representation of the model by stacking heterogeneous embeddings from a diverse domain(s); our empirical results demonstrate complementary learning from these heterogeneous embeddings. Our submission ranked 3rd in both of the shared tasks. In the second part of the thesis, we explored synthetic data augmentation strategies to address low-resource information extraction in specialized domains. Specifically, we adapted backtranslation to the token-level task of named entity recognition and sentence-level task of relation extraction. We demonstrate that backtranslation can generate linguistically diverse and grammatically coherent synthetic sentences and serve as a competitive augmentation strategy for the task of named entity recognition and relation extraction. In most of the real-world relation extraction tasks, the annotated data is not available, however, quite often a large unannotated text corpus is available. Bootstrapping methods for relation extraction can operate on this large corpus as they only require a handful of seed instances. However, bootstrapping methods tend to accumulate noise over time (known as semantic drift) and this phenomenon has a drastic negative impact on the final precision of the extractions. We develop two methods to constrain the bootstrapping process to minimise semantic drift for relation extraction; our methods leverage graph theory and pre-trained language models to explicitly identify and remove noisy extraction patterns. We report the experimental results on the TACRED dataset for four relations. In the last part of the thesis, we demonstrate the application of domain adaptation to the challenging task of multi-lingual acronym extraction. Our experiments demonstrate that domain adaptation can improve acronym extraction within scientific and legal domains in 6 languages including low-resource languages such as Persian and Vietnamese

On Generative Models and Joint Architectures for Document-level Relation Extraction

Biomedical text is being generated at a high rate in scientific literature publications and electronic health records. Within these documents lies a wealth of potentially useful information in biomedicine. Relation extraction (RE), the process of automating the identification of structured relationships between entities within text, represents a highly sought-after goal in biomedical informatics, offering the potential to unlock deeper insights and connections from this vast corpus of data. In this dissertation, we tackle this problem with a variety of approaches. We review the recent history of the field of document-level RE. Several themes emerge. First, graph neural networks dominate the methods for constructing entity and relation representations. Second, clever uses of attention allow for the these constructions to focus on particularly relevant tokens and object (such as mentions and entities) representations. Third, aggregation of signal across mentions in entity-level RE is a key focus of research. Fourth, the injection of additional signal by adding tokens to the text prior to encoding via language model (LM) or through additional learning tasks boosts performance. Last, we explore an assortment of strategies for the challenging task of end-to-end entity-level RE. Of particular note are sequence-to-sequence (seq2seq) methods that have become particularly popular in the past few years. With the success of general-domain generative LMs, biomedical NLP researchers have trained a variety of these models on biomedical text under the assumption that they would be superior for biomedical tasks. As training such models is computationally expensive, we investigate whether they outperform generic models. We test this assumption rigorously by comparing performance of all major biomedical generative language models to the performances of their generic counterparts across multiple biomedical RE datasets, in the traditional finetuning setting as well as in the few-shot setting. Surprisingly, we found that biomedical models tended to underperform compared to their generic counterparts. However, we found that small-scale biomedical instruction finetuning improved performance to a similar degree as larger-scale generic instruction finetuning. Zero-shot natural language processing (NLP) offers savings on the expenses associated with annotating datasets and the specialized knowledge required for applying NLP methods. Large, generative LMs trained to align with human objectives have demonstrated impressive zero-shot capabilities over a broad range of tasks. However, the effectiveness of these models in biomedical RE remains uncertain. To bridge this gap in understanding, we investigate how GPT-4 performs across several RE datasets. We experiment with the recent JSON generation features to generate structured output, which we use alternately by defining an explicit schema describing the relation structure, and inferring the structure from the prompt itself. Our work is the first to study zero-shot biomedical RE across a variety of datasets. Overall, performance was lower than that of fully-finetuned methods. Recall suffered in examples with more than a few relations. Entity mention boundaries were a major source of error, which future work could fruitfully address. In our previous work with generative LMs, we noted that RE performance decreased with the number of gold relations in an example. This observation aligns with the general pattern that recurrent neural network and transformer-based model performance tends to decrease with sequence length. Generative LMs also do not identify textual mentions or group them into entities, which are valuable information extraction tasks unto themselves. Therefore, in this age of generative methods, we revisit non-seq2seq methodology for biomedical RE. We adopt a sequential framework of named entity recognition (NER), clustering mentions into entities, followed by relation classification (RC). As errors early in the pipeline necessarily cause downstream errors, and NER performance is near its ceiling, we focus on improving clustering. We match state-of-the-art (SOTA) performance in NER, and substantially improve mention clustering performance by incorporating dependency parsing and gating string dissimilarity embeddings. Overall, we advance the field of biomedical RE in a few ways. In our experiments of finetuned LMs, we show that biomedicine-specific models are unnecessary, freeing researchers to make use of SOTA generic LMs. The relatively high few-shot performance in these experiments also suggests that biomedical RE can be reasonably accessible, as it is not so difficult to construct small datasets. Our investigation into zero-shot RE shows that SOTA LMs can compete with fully finetuned smaller LMs. Together these studies also demonstrate weaknesses of generative RE. Last, we show that non-generative RE methods still outperform generative methods in the fully-finetuned setting

Knowledge extraction from unstructured data

Data availability is becoming more essential, considering the current growth of web-based data. The data available on the web are represented as unstructured, semi-structured, or structured data. In order to make the web-based data available for several Natural Language Processing or Data Mining tasks, the data needs to be presented as machine-readable data in a structured format. Thus, techniques for addressing the problem of capturing knowledge from unstructured data sources are needed. Knowledge extraction methods are used by the research communities to address this problem; methods that are able to capture knowledge in a natural language text and map the extracted knowledge to existing knowledge presented in knowledge graphs (KGs). These knowledge extraction methods include Named-entity recognition, Named-entity Disambiguation, Relation Recognition, and Relation Linking. This thesis addresses the problem of extracting knowledge over unstructured data and discovering patterns in the extracted knowledge. We devise a rule-based approach for entity and relation recognition and linking. The defined approach effectively maps entities and relations within a text to their resources in a target KG. Additionally, it overcomes the challenges of recognizing and linking entities and relations to a specific KG by employing devised catalogs of linguistic and domain-specific rules that state the criteria to recognize entities in a sentence of a particular language, and a deductive database that encodes knowledge in community-maintained KGs. Moreover, we define a Neuro-symbolic approach for the tasks of knowledge extraction in encyclopedic and domain-specific domains; it combines symbolic and sub-symbolic components to overcome the challenges of entity recognition and linking and the limitation of the availability of training data while maintaining the accuracy of recognizing and linking entities. Additionally, we present a context-aware framework for unveiling semantically related posts in a corpus; it is a knowledge-driven framework that retrieves associated posts effectively. We cast the problem of unveiling semantically related posts in a corpus into the Vertex Coloring Problem. We evaluate the performance of our techniques on several benchmarks related to various domains for knowledge extraction tasks. Furthermore, we apply these methods in real-world scenarios from national and international projects. The outcomes show that our techniques are able to effectively extract knowledge encoded in unstructured data and discover patterns over the extracted knowledge presented as machine-readable data. More importantly, the evaluation results provide evidence to the effectiveness of combining the reasoning capacity of the symbolic frameworks with the power of pattern recognition and classification of sub-symbolic models

EVALITA Evaluation of NLP and Speech Tools for Italian Proceedings of the Final Workshop

Editor of the proceedings of EVALITA 2016

Knowledge-driven entity recognition and disambiguation in biomedical text

Entity recognition and disambiguation (ERD) for the biomedical domain are notoriously difficult problems due to the variety of entities and their often long names in many variations. Existing works focus heavily on the molecular level in two ways. First, they target scientific literature as the input text genre. Second, they target single, highly specialized entity types such as chemicals, genes, and proteins. However, a wealth of biomedical information is also buried in the vast universe of Web content. In order to fully utilize all the information available, there is a need to tap into Web content as an additional input. Moreover, there is a need to cater for other entity types such as symptoms and risk factors since Web content focuses on consumer health. The goal of this thesis is to investigate ERD methods that are applicable to all entity types in scientific literature as well as Web content. In addition, we focus on under-explored aspects of the biomedical ERD problems -- scalability, long noun phrases, and out-of-knowledge base (OOKB) entities. This thesis makes four main contributions, all of which leverage knowledge in UMLS (Unified Medical Language System), the largest and most authoritative knowledge base (KB) of the biomedical domain. The first contribution is a fast dictionary lookup method for entity recognition that maximizes throughput while balancing the loss of precision and recall. The second contribution is a semantic type classification method targeting common words in long noun phrases. We develop a custom set of semantic types to capture word usages; besides biomedical usage, these types also cope with non-biomedical usage and the case of generic, non-informative usage. The third contribution is a fast heuristics method for entity disambiguation in MEDLINE abstracts, again maximizing throughput but this time maintaining accuracy. The fourth contribution is a corpus-driven entity disambiguation method that addresses OOKB entities. The method first captures the entities expressed in a corpus as latent representations that comprise in-KB and OOKB entities alike before performing entity disambiguation.Die Erkennung und Disambiguierung von Entitäten für den biomedizinischen Bereich stellen, wegen der vielfältigen Arten von biomedizinischen Entitäten sowie deren oft langen und variantenreichen Namen, große Herausforderungen dar. Vorhergehende Arbeiten konzentrieren sich in zweierlei Hinsicht fast ausschließlich auf molekulare Entitäten. Erstens fokussieren sie sich auf wissenschaftliche Publikationen als Genre der Eingabetexte. Zweitens fokussieren sie sich auf einzelne, sehr spezialisierte Entitätstypen wie Chemikalien, Gene und Proteine. Allerdings bietet das Internet neben diesen Quellen eine Vielzahl an Inhalten biomedizinischen Wissens, das vernachlässigt wird. Um alle verfügbaren Informationen auszunutzen besteht der Bedarf weitere Internet-Inhalte als zusätzliche Quellen zu erschließen. Außerdem ist es auch erforderlich andere Entitätstypen wie Symptome und Risikofaktoren in Betracht zu ziehen, da diese für zahlreiche Inhalte im Internet, wie zum Beispiel Verbraucherinformationen im Gesundheitssektor, relevant sind. Das Ziel dieser Dissertation ist es, Methoden zur Erkennung und Disambiguierung von Entitäten zu erforschen, die alle Entitätstypen in Betracht ziehen und sowohl auf wissenschaftliche Publikationen als auch auf andere Internet-Inhalte anwendbar sind. Darüber hinaus setzen wir Schwerpunkte auf oft vernachlässigte Aspekte der biomedizinischen Erkennung und Disambiguierung von Entitäten, nämlich Skalierbarkeit, lange Nominalphrasen und fehlende Entitäten in einer Wissensbank. In dieser Hinsicht leistet diese Dissertation vier Hauptbeiträge, denen allen das Wissen von UMLS (Unified Medical Language System), der größten und wichtigsten Wissensbank im biomedizinischen Bereich, zu Grunde liegt. Der erste Beitrag ist eine schnelle Methode zur Erkennung von Entitäten mittels Lexikonabgleich, welche den Durchsatz maximiert und gleichzeitig den Verlust in Genauigkeit und Trefferquote (precision and recall) balanciert. Der zweite Beitrag ist eine Methode zur Klassifizierung der semantischen Typen von Nomen, die sich auf gebräuchliche Nomen von langen Nominalphrasen richtet und auf einer selbstentwickelten Sammlung von semantischen Typen beruht, die die Verwendung der Nomen erfasst. Neben biomedizinischen können diese Typen auch nicht-biomedizinische und allgemeine, informationsarme Verwendungen behandeln. Der dritte Beitrag ist eine schnelle Heuristikmethode zur Disambiguierung von Entitäten in MEDLINE Kurzfassungen, welche den Durchsatz maximiert, aber auch die Genauigkeit erhält. Der vierte Beitrag ist eine korpusgetriebene Methode zur Disambiguierung von Entitäten, die speziell fehlende Entitäten in einer Wissensbank behandelt. Die Methode wandelt erst die Entitäten, die in einem Textkorpus ausgedrückt aber nicht notwendigerweise in einer Wissensbank sind, in latente Darstellungen um und führt anschließend die Disambiguierung durch