Using Neural Networks for Relation Extraction from Biomedical Literature

Using different sources of information to support automated extracting of relations between biomedical concepts contributes to the development of our understanding of biological systems. The primary comprehensive source of these relations is biomedical literature. Several relation extraction approaches have been proposed to identify relations between concepts in biomedical literature, namely, using neural networks algorithms. The use of multichannel architectures composed of multiple data representations, as in deep neural networks, is leading to state-of-the-art results. The right combination of data representations can eventually lead us to even higher evaluation scores in relation extraction tasks. Thus, biomedical ontologies play a fundamental role by providing semantic and ancestry information about an entity. The incorporation of biomedical ontologies has already been proved to enhance previous state-of-the-art results.Comment: Artificial Neural Networks book (Springer) - Chapter 1

BioRED: A Comprehensive Biomedical Relation Extraction Dataset

Automated relation extraction (RE) from biomedical literature is critical for many downstream text mining applications in both research and real-world settings. However, most existing benchmarking datasets for bio-medical RE only focus on relations of a single type (e.g., protein-protein interactions) at the sentence level, greatly limiting the development of RE systems in biomedicine. In this work, we first review commonly used named entity recognition (NER) and RE datasets. Then we present BioRED, a first-of-its-kind biomedical RE corpus with multiple entity types (e.g., gene/protein, disease, chemical) and relation pairs (e.g., gene-disease; chemical-chemical), on a set of 600 PubMed articles. Further, we label each relation as describing either a novel finding or previously known background knowledge, enabling automated algorithms to differentiate between novel and background information. We assess the utility of BioRED by benchmarking several existing state-of-the-art methods, including BERT-based models, on the NER and RE tasks. Our results show that while existing approaches can reach high performance on the NER task (F-score of 89.3%), there is much room for improvement for the RE task, especially when extracting novel relations (F-score of 47.7%). Our experiments also demonstrate that such a comprehensive dataset can successfully facilitate the development of more accurate, efficient, and robust RE systems for biomedicine

Machine Learning and Integrative Analysis of Biomedical Big Data.

Recent developments in high-throughput technologies have accelerated the accumulation of massive amounts of omics data from multiple sources: genome, epigenome, transcriptome, proteome, metabolome, etc. Traditionally, data from each source (e.g., genome) is analyzed in isolation using statistical and machine learning (ML) methods. Integrative analysis of multi-omics and clinical data is key to new biomedical discoveries and advancements in precision medicine. However, data integration poses new computational challenges as well as exacerbates the ones associated with single-omics studies. Specialized computational approaches are required to effectively and efficiently perform integrative analysis of biomedical data acquired from diverse modalities. In this review, we discuss state-of-the-art ML-based approaches for tackling five specific computational challenges associated with integrative analysis: curse of dimensionality, data heterogeneity, missing data, class imbalance and scalability issues

Deep Neural Architectures for End-to-End Relation Extraction

The rapid pace of scientific and technological advancements has led to a meteoric growth in knowledge, as evidenced by a sharp increase in the number of scholarly publications in recent years. PubMed, for example, archives more than 30 million biomedical articles across various domains and covers a wide range of topics including medicine, pharmacy, biology, and healthcare. Social media and digital journalism have similarly experienced their own accelerated growth in the age of big data. Hence, there is a compelling need for ways to organize and distill the vast, fragmented body of information (often unstructured in the form of natural human language) so that it can be assimilated, reasoned about, and ultimately harnessed. Relation extraction is an important natural language task toward that end. In relation extraction, semantic relationships are extracted from natural human language in the form of (subject, object, predicate) triples such that subject and object are mentions of discrete concepts and predicate indicates the type of relation between them. The difficulty of relation extraction becomes clear when we consider the myriad of ways the same relation can be expressed in natural language. Much of the current works in relation extraction assume that entities are known at extraction time, thus treating entity recognition as an entirely separate and independent task. However, recent studies have shown that entity recognition and relation extraction, when modeled together as interdependent tasks, can lead to overall improvements in extraction accuracy. When modeled in such a manner, the task is referred to as end-to-end relation extraction. In this work, we present four studies that introduce incrementally sophisticated architectures designed to tackle the task of end-to-end relation extraction. In the first study, we present a pipeline approach for extracting protein-protein interactions as affected by particular mutations. The pipeline system makes use of recurrent neural networks for protein detection, lexicons for gene normalization, and convolutional neural networks for relation extraction. In the second study, we show that a multi-task learning framework, with parameter sharing, can achieve state-of-the-art results for drug-drug interaction extraction. At its core, the model uses graph convolutions, with a novel attention-gating mechanism, over dependency parse trees. In the third study, we present a more efficient and general-purpose end-to-end neural architecture designed around the idea of the table-filling paradigm; for an input sentence of length n, all entities and relations are extracted in a single pass of the network in an indirect fashion by populating the cells of a corresponding n by n table using metric-based features. We show that this approach excels in both the general English and biomedical domains with extraction times that are up to an order of magnitude faster compared to the prior best. In the fourth and last study, we present an architecture for relation extraction that, in addition to being end-to-end, is able to handle cross-sentence and N-ary relations. Overall, our work contributes to the advancement of modern information extraction by exploring end-to-end solutions that are fast, accurate, and generalizable to many high-value domains

The Infectious Disease Ontology in the Age of COVID-19

The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health. IDO Core is designed to be a disease and pathogen neutral ontology, covering just those types of entities and relations that are relevant to infectious diseases generally. IDO Core is then extended by a collection of ontology modules focusing on specific diseases and pathogens. In this paper we present applications of IDO Core within various areas of infectious disease research, together with an overview of all IDO extension ontologies and the methodology on the basis of which they are built. We also survey recent developments involving IDO, including the creation of IDO Virus; the Coronaviruses Infectious Disease Ontology (CIDO); and an extension of CIDO focused on COVID-19 (IDO-CovID-19).We also discuss how these ontologies might assist in information-driven efforts to deal with the ongoing COVID-19 pandemic, to accelerate data discovery in the early stages of future pandemics, and to promote reproducibility of infectious disease research