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Robert Hoehndorf

Publications and source records attributed to Robert Hoehndorf.

34 records · Page 2Linked to original sources
arXiv2023

From axioms over graphs to vectors, and back again: evaluating the properties of graph-based ontology embeddings

Several approaches have been developed that generate embeddings for Description Logic ontologies and use these embeddings in machine learning. One approach of generating ontologies embeddings is by first embedding the ontologies into a graph structure, i.e., introducing a set of nodes and edges for named entities and logical axioms, and then applying a graph embedding to embed the graph in $\mathbb{R}^n$. Methods that embed ontologies in graphs (graph projections) have different formal properties related to the type of axioms they can utilize, whether the projections are invertible or not, and whether they can be applied to asserted axioms or their deductive closure. We analyze, qualitatively and quantitatively, several graph projection methods that have been used to embed ontologies, and we demonstrate the effect of the properties of graph projections on the performance of predicting axioms from ontology embeddings. We find that there are substantial differences between different projection methods, and both the projection of axioms into nodes and edges as well ontological choices in representing knowledge will impact the success of using ontology embeddings to predict axioms.

cs.AI↗
arXiv2023

Semantic Units: Organizing knowledge graphs into semantically meaningful units of representation

Knowledge graphs and ontologies are becoming increasingly important as technical solutions for Findable, Accessible, Interoperable, and Reusable data and metadata (FAIR Guiding Principles). We discuss four challenges that impede the use of FAIR knowledge graphs and propose semantic units as their potential solution. Semantic units structure a knowledge graph into identifiable and semantically meaningful subgraphs. Each unit is represented by its own resource, instantiates a corresponding semantic unit class, and can be implemented as a FAIR Digital Object and a nanopublication in RDF/OWL and property graphs. We distinguish statement and compound units as basic categories of semantic units. Statement units represent smallest, independent propositions that are semantically meaningful for a human reader. They consist of one or more triples and mathematically partition a knowledge graph. We distinguish assertional, contingent (prototypical), and universal statement units as basic types of statement units and propose representational schemes and formal semantics for them (including for absence statements, negations, and cardinality restrictions) that do not involve blank nodes and that translate back to OWL. Compound units, on the other hand, represent semantically meaningful collections of semantic units and we distinguish various types of compound units, representing different levels of representational granularity, different types of granularity trees, and different frames of reference. Semantic units support making statements about statements, can be used for graph-alignment, subgraph-matching, knowledge graph profiling, and for managing access restrictions to sensitive data. Organizing the graph into semantic units supports the separation of ontological, diagnostic (i.e., referential), and discursive information, and it also supports the differentiation of multiple frames of reference.

cs.DB↗
arXiv2022

TAR: Neural Logical Reasoning across TBox and ABox

Many ontologies, i.e., Description Logic (DL) knowledge bases, have been developed to provide rich knowledge about various domains. An ontology consists of an ABox, i.e., assertion axioms between two entities or between a concept and an entity, and a TBox, i.e., terminology axioms between two concepts. Neural logical reasoning (NLR) is a fundamental task to explore such knowledge bases, which aims at answering multi-hop queries with logical operations based on distributed representations of queries and answers. While previous NLR methods can give specific entity-level answers, i.e., ABox answers, they are not able to provide descriptive concept-level answers, i.e., TBox answers, where each concept is a description of a set of entities. In other words, previous NLR methods only reason over the ABox of an ontology while ignoring the TBox. In particular, providing TBox answers enables inferring the explanations of each query with descriptive concepts, which make answers comprehensible to users and are of great usefulness in the field of applied ontology. In this work, we formulate the problem of neural logical reasoning across TBox and ABox (TA-NLR), solving which needs to address challenges in incorporating, representing, and operating on concepts. We propose an original solution named TAR for TA-NLR. Firstly, we incorporate description logic based ontological axioms to provide the source of concepts. Then, we represent concepts and queries as fuzzy sets, i.e., sets whose elements have degrees of membership, to bridge concepts and queries with entities. Moreover, we design operators involving concepts on top of fuzzy set representation of concepts and queries for optimization and inference. Extensive experimental results on two real-world datasets demonstrate the effectiveness of TAR for TA-NLR.

cs.AI↗
arXiv2022

Positive-Unlabeled Learning with Adversarial Data Augmentation for Knowledge Graph Completion

Most real-world knowledge graphs (KG) are far from complete and comprehensive. This problem has motivated efforts in predicting the most plausible missing facts to complete a given KG, i.e., knowledge graph completion (KGC). However, existing KGC methods suffer from two main issues, 1) the false negative issue, i.e., the sampled negative training instances may include potential true facts; and 2) the data sparsity issue, i.e., true facts account for only a tiny part of all possible facts. To this end, we propose positive-unlabeled learning with adversarial data augmentation (PUDA) for KGC. In particular, PUDA tailors positive-unlabeled risk estimator for the KGC task to deal with the false negative issue. Furthermore, to address the data sparsity issue, PUDA achieves a data augmentation strategy by unifying adversarial training and positive-unlabeled learning under the positive-unlabeled minimax game. Extensive experimental results on real-world benchmark datasets demonstrate the effectiveness and compatibility of our proposed method.

cs.LG↗
arXiv2022

Description Logic EL++ Embeddings with Intersectional Closure

Many ontologies, in particular in the biomedical domain, are based on the Description Logic EL++. Several efforts have been made to interpret and exploit EL++ ontologies by distributed representation learning. Specifically, concepts within EL++ theories have been represented as n-balls within an n-dimensional embedding space. However, the intersectional closure is not satisfied when using n-balls to represent concepts because the intersection of two n-balls is not an n-ball. This leads to challenges when measuring the distance between concepts and inferring equivalence between concepts. To this end, we developed EL Box Embedding (ELBE) to learn Description Logic EL++ embeddings using axis-parallel boxes. We generate specially designed box-based geometric constraints from EL++ axioms for model training. Since the intersection of boxes remains as a box, the intersectional closure is satisfied. We report extensive experimental results on three datasets and present a case study to demonstrate the effectiveness of the proposed method.

cs.AI↗
arXiv2020

Efficient long-distance relation extraction with DG-SpanBERT

In natural language processing, relation extraction seeks to rationally understand unstructured text. Here, we propose a novel SpanBERT-based graph convolutional network (DG-SpanBERT) that extracts semantic features from a raw sentence using the pre-trained language model SpanBERT and a graph convolutional network to pool latent features. Our DG-SpanBERT model inherits the advantage of SpanBERT on learning rich lexical features from large-scale corpus. It also has the ability to capture long-range relations between entities due to the usage of GCN on dependency tree. The experimental results show that our model outperforms other existing dependency-based and sequence-based models and achieves a state-of-the-art performance on the TACRED dataset.

cs.CL↗
arXiv2019

EL Embeddings: Geometric construction of models for the Description Logic EL ++

An embedding is a function that maps entities from one algebraic structure into another while preserving certain characteristics. Embeddings are being used successfully for mapping relational data or text into vector spaces where they can be used for machine learning, similarity search, or similar tasks. We address the problem of finding vector space embeddings for theories in the Description Logic $\mathcal{EL}^{++}$ that are also models of the TBox. To find such embeddings, we define an optimization problem that characterizes the model-theoretic semantics of the operators in $\mathcal{EL}^{++}$ within $\Re^n$, thereby solving the problem of finding an interpretation function for an $\mathcal{EL}^{++}$ theory given a particular domain $Δ$. Our approach is mainly relevant to large $\mathcal{EL}^{++}$ theories and knowledge bases such as the ontologies and knowledge graphs used in the life sciences. We demonstrate that our method can be used for improved prediction of protein--protein interactions when compared to semantic similarity measures or knowledge graph embedding

cs.AI↗
arXiv2018

OPA2Vec: combining formal and informal content of biomedical ontologies to improve similarity-based prediction

Motivation: Ontologies are widely used in biology for data annotation, integration, and analysis. In addition to formally structured axioms, ontologies contain meta-data in the form of annotation axioms which provide valuable pieces of information that characterize ontology classes. Annotations commonly used in ontologies include class labels, descriptions, or synonyms. Despite being a rich source of semantic information, the ontology meta-data are generally unexploited by ontology-based analysis methods such as semantic similarity measures. Results: We propose a novel method, OPA2Vec, to generate vector representations of biological entities in ontologies by combining formal ontology axioms and annotation axioms from the ontology meta-data. We apply a Word2Vec model that has been pre-trained on PubMed abstracts to produce feature vectors from our collected data. We validate our method in two different ways: first, we use the obtained vector representations of proteins as a similarity measure to predict protein-protein interaction (PPI) on two different datasets. Second, we evaluate our method on predicting gene-disease associations based on phenotype similarity by generating vector representations of genes and diseases using a phenotype ontology, and applying the obtained vectors to predict gene-disease associations. These two experiments are just an illustration of the possible applications of our method. OPA2Vec can be used to produce vector representations of any biomedical entity given any type of biomedical ontology. Availability: https://github.com/bio-ontology-research-group/opa2vec Contact: robert.hoehndorf@kaust.edu.sa and xin.gao@kaust.edu.sa.

cs.CL↗
arXiv2018

Taxon and trait recognition from digitized herbarium specimens using deep convolutional neural networks

Herbaria worldwide are housing a treasure of 100s of millions of herbarium specimens, which are increasingly being digitized in recent years and thereby made more easily accessible to the scientific community. At the same time, deep learning algorithms are rapidly improving pattern recognition from images and these techniques are more and more being applied to biological objects. We are using digital images of herbarium specimens in order to identify taxa and traits of these collection objects by applying convolutional neural networks (CNN). Images of the 1000 species most frequently documented by herbarium specimens on GBIF have been downloaded and combined with morphological trait data, preprocessed and divided into training and test datasets for species and trait recognition. Good performance in both domains is promising to use this approach in future tools supporting taxonomy and natural history collection management.

q-bio.PE↗
arXiv2017

DeepGO: Predicting protein functions from sequence and interactions using a deep ontology-aware classifier

A large number of protein sequences are becoming available through the application of novel high-throughput sequencing technologies. Experimental functional characterization of these proteins is time-consuming and expensive, and is often only done rigorously for few selected model organisms. Computational function prediction approaches have been suggested to fill this gap. The functions of proteins are classified using the Gene Ontology (GO), which contains over 40,000 classes. Additionally, proteins have multiple functions, making function prediction a large-scale, multi-class, multi-label problem. We have developed a novel method to predict protein function from sequence. We use deep learning to learn features from protein sequences as well as a cross-species protein-protein interaction network. Our approach specifically outputs information in the structure of the GO and utilizes the dependencies between GO classes as background information to construct a deep learning model. We evaluate our method using the standards established by the Computational Assessment of Function Annotation (CAFA) and demonstrate a significant improvement over baseline methods such as BLAST, with significant improvement for predicting cellular locations.

q-bio.GN↗
arXiv2016

Neuro-symbolic representation learning on biological knowledge graphs

Motivation: Biological data and knowledge bases increasingly rely on Semantic Web technologies and the use of knowledge graphs for data integration, retrieval and federated queries. In the past years, feature learning methods that are applicable to graph-structured data are becoming available, but have not yet widely been applied and evaluated on structured biological knowledge. Results: We develop a novel method for feature learning on biological knowledge graphs. Our method combines symbolic methods, in particular knowledge representation using symbolic logic and automated reasoning, with neural networks to generate embeddings of nodes that encode for related information within knowledge graphs. Through the use of symbolic logic, these embeddings contain both explicit and implicit information. We apply these embeddings to the prediction of edges in the knowledge graph representing problems of function prediction, finding candidate genes of diseases, protein-protein interactions, or drug target relations, and demonstrate performance that matches and sometimes outperforms traditional approaches based on manually crafted features. Our method can be applied to any biological knowledge graph, and will thereby open up the increasing amount of Semantic Web based knowledge bases in biology to use in machine learning and data analytics. Availability and Implementation: https://github.com/bio-ontology-research-group/walking-rdf-and-owl Contact: robert.hoehndorf@kaust.edu.sa

q-bio.QM↗
arXiv2016

Prediction of Metabolic Pathways Involvement in Prokaryotic UniProtKB Data by Association Rule Mining

The widening gap between known proteins and their functions has encouraged the development of methods to automatically infer annotations. Automatic functional annotation of proteins is expected to meet the conflicting requirements of maximizing annotation coverage, while minimizing erroneous functional assignments. This trade-off imposes a great challenge in designing intelligent systems to tackle the problem of automatic protein annotation. In this work, we present a system that utilizes rule mining techniques to predict metabolic pathways in prokaryotes. The resulting knowledge represents predictive models that assign pathway involvement to UniProtKB entries. We carried out an evaluation study of our system performance using cross-validation technique. We found that it achieved very promising results in pathway identification with an F1-measure of 0.982 and an AUC of 0.987. Our prediction models were then successfully applied to 6.2 million UniProtKB/TrEMBL reference proteome entries of prokaryotes. As a result, 663,724 entries were covered, where 436,510 of them lacked any previous pathway annotations.

q-bio.QM↗
arXiv2014

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases

Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet. Exploiting these resources, several computational methods have been developed for integration and analysis of phenotype data to identify the genetic etiology of diseases or suggest plausible interventions. A similar resource would be highly useful not only for rare and Mendelian diseases, but also for common, complex and infectious diseases. We apply a semantic text- mining approach to identify the phenotypes (signs and symptoms) associated with over 8,000 diseases. We demonstrate that our method generates phenotypes that correctly identify known disease-associated genes in mice and humans with high accuracy. Using a phenotypic similarity measure, we generate a human disease network in which diseases that share signs and symptoms cluster together, and we use this network to identify phenotypic disease modules.

q-bio.QM↗
arXiv2014

Aber-OWL: a framework for ontology-based data access in biology

Many ontologies have been developed in biology and these ontologies increasingly contain large volumes of formalized knowledge commonly expressed in the Web Ontology Language (OWL). Computational access to the knowledge contained within these ontologies relies on the use of automated reasoning. We have developed the Aber-OWL infrastructure that provides reasoning services for bio-ontologies. Aber-OWL consists of an ontology repository, a set of web services and web interfaces that enable ontology-based semantic access to biological data and literature. Aber-OWL is freely available at http://aber-owl.net.

cs.DB↗
arXiv2012

Towards quantitative measures in applied ontology

Applied ontology is a relatively new field which aims to apply theories and methods from diverse disciplines such as philosophy, cognitive science, linguistics and formal logics to perform or improve domain-specific tasks. To support the development of effective research methodologies for applied ontology, we critically discuss the question how its research results should be evaluated. We propose that results in applied ontology must be evaluated within their domain of application, based on some ontology-based task within the domain, and discuss quantitative measures which would facilitate the objective evaluation and comparison of research results in applied ontology.

cs.AI↗