Matthias Samwald

dblp:96/2035 · DBLP profile ↗
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30ranked-venue papers
3as first author
12since 2021 · last 2024
0000-0002-4855-2571ORCID · verified

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 16 · 2 first-author · 4 since 2021Artificial intelligence and machine learning · 9 · 1 first-author · 7 since 2021Databases, data management, data science and information retrieval · 5 · 1 since 2021Graphics, computer vision, multimedia, augmented reality and games · 1
YearPublicationVenuePosition
2024 Model-agnostic explainable artificial intelligence for object detection in image data
Milad Moradi, David Colwell, Matthias Samwald, Rhona Asgari
Eng. Appl. Artif. Intell.4
2023 CSMeD: Bridging the Dataset Gap in Automated Citation Screening for Systematic Literature Reviews
abstract
Systematic literature reviews (SLRs) play an essential role in summarising, synthesising and validating scientific evidence. In recent years, there has been a growing interest in using machine learning techniques to automate the identification of relevant studies for SLRs. However, the lack of standardised evaluation datasets makes comparing the performance of such automated literature screening systems difficult. In this paper, we analyse the citation screening evaluation datasets, revealing that many of the available datasets are either too small, suffer from data leakage or have limited applicability to systems treating automated literature screening as a classification task, as opposed to, for example, a retrieval or question-answering task. To address these challenges, we introduce CSMED, a meta-dataset consolidating nine publicly released collections, providing unified access to 325 SLRs from the fields of medicine and computer science. CSMED serves as a comprehensive resource for training and evaluating the performance of automated citation screening models. Additionally, we introduce CSMED-FT, a new dataset designed explicitly for evaluating the full text publication screening task. To demonstrate the utility of CSMED, we conduct experiments and establish baselines on new datasets.
Wojciech Kusa, Óscar E. Mendoza, Matthias Samwald, Petr Knoth, Allan Hanbury
NeurIPS3
2023 Benchmark datasets driving artificial intelligence development fail to capture the needs of medical professionals
abstract
Publicly accessible benchmarks that allow for assessing and comparing model performances are important drivers of progress in artificial intelligence (AI). While recent advances in AI capabilities hold the potential to transform medical practice by assisting and augmenting the cognitive processes of healthcare professionals, the coverage of clinically relevant tasks by AI benchmarks is largely unclear. Furthermore, there is a lack of systematized meta-information that allows clinical AI researchers to quickly determine accessibility, scope, content and other characteristics of datasets and benchmark datasets relevant to the clinical domain. To address these issues, we curated and released a comprehensive catalogue of datasets and benchmarks pertaining to the broad domain of clinical and biomedical natural language processing (NLP), based on a systematic review of literature and. A total of 450 NLP datasets were manually systematized and annotated with rich metadata, such as targeted tasks, clinical applicability, data types, performance metrics, accessibility and licensing information, and availability of data splits. We then compared tasks covered by AI benchmark datasets with relevant tasks that medical practitioners reported as highly desirable targets for automation in a previous empirical study. Our analysis indicates that AI benchmarks of direct clinical relevance are scarce and fail to cover most work activities that clinicians want to see addressed. In particular, tasks associated with routine documentation and patient data administration workflows are not represented despite significant associated workloads. Thus, currently available AI benchmarks are improperly aligned with desired targets for AI automation in clinical settings, and novel benchmarks should be created to fill these gaps.
Kathrin Blagec, Jakob Kraiger, Wolfgang Fruehwirt, Matthias Samwald
J. Biomed. Informatics4
2023 Applying unsupervised keyphrase methods on concepts extracted from discharge sheets
Hoda Memarzadeh, Nasser Ghadiri, Matthias Samwald, Maryam Lotfi Shahreza
Pattern Anal. Appl.3
2022 BigBio: A Framework for Data-Centric Biomedical Natural Language Processing
abstract
Training and evaluating language models increasingly requires the construction of meta-datasets -- diverse collections of curated data with clear provenance. Natural language prompting has recently lead to improved zero-shot generalization by transforming existing, supervised datasets into a variety of novel instruction tuning tasks, highlighting the benefits of meta-dataset curation. While successful in general-domain text, translating these data-centric approaches to biomedical language modeling remains challenging, as labeled biomedical datasets are significantly underrepresented in popular data hubs. To address this challenge, we introduce BigBio a community library of 126+ biomedical NLP datasets, currently covering 13 task categories and 10+ languages. BigBio facilitates reproducible meta-dataset curation via programmatic access to datasets and their metadata, and is compatible with current platforms for prompt engineering and end-to-end few/zero shot language model evaluation. We discuss our process for task schema harmonization, data auditing, contribution guidelines, and outline two illustrative use cases: zero-shot evaluation of biomedical prompts and large-scale, multi-task learning. BigBio is an ongoing community effort and is available at https://github.com/bigscience-workshop/biomedical
Jason Alan Fries, Leon Weber-Genzel, Natasha Seelam, Gabriel Altay, Debajyoti Datta, Samuele Garda, Sunny Kang, Rosaline Su, Wojciech Kusa, Samuel Cahyawijaya, Fabio Barth, Simon Ott, Matthias Samwald, Stephen H. Bach, Stella Biderman, Mario Sänger, Bo Wang 0044, Alison Callahan, Daniel León Periñán, Théo Gigant, Patrick Haller 0002, Jenny Chim, José D. Posada, John M. Giorgi, Karthik Rangasai Sivaraman, Marc Pàmies, Marianna Nezhurina, Robert Martin, Michael Cullan, Moritz Freidank, Nathan Dahlberg, Shubhanshu Mishra, Shamik Bose, Nicholas Broad, Yanis Labrak, Shlok Deshmukh, Sid Kiblawi, Ayush Singh, Minh Chien Vu, Trishala Neeraj, Jonas Golde, Albert Villanova del Moral, Benjamin Beilharz
NeurIPS13
2022 LinkExplorer: predicting, explaining and exploring links in large biomedical knowledge graphs
abstract
SUMMARY: Machine learning algorithms for link prediction can be valuable tools for hypothesis generation. However, many current algorithms are black boxes or lack good user interfaces that could facilitate insight into why predictions are made. We present LinkExplorer, a software suite for predicting, explaining and exploring links in large biomedical knowledge graphs. LinkExplorer integrates our novel, rule-based link prediction engine SAFRAN, which was recently shown to outcompete other explainable algorithms and established black-box algorithms. Here, we demonstrate highly competitive evaluation results of our algorithm on multiple large biomedical knowledge graphs, and release a web interface that allows for interactive and intuitive exploration of predicted links and their explanations. AVAILABILITY AND IMPLEMENTATION: A publicly hosted instance, source code and further documentation can be found at https://github.com/OpenBioLink/Explorer. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Simon Ott, Adriano Barbosa-Silva, Matthias Samwald
Bioinform.3
2022 Improving the robustness and accuracy of biomedical language models through adversarial training
abstract
Deep transformer neural network models have improved the predictive accuracy of intelligent text processing systems in the biomedical domain. They have obtained state-of-the-art performance scores on a wide variety of biomedical and clinical Natural Language Processing (NLP) benchmarks. However, the robustness and reliability of these models has been less explored so far. Neural NLP models can be easily fooled by adversarial samples, i.e. minor changes to input that preserve the meaning and understandability of the text but force the NLP system to make erroneous decisions. This raises serious concerns about the security and trust-worthiness of biomedical NLP systems, especially when they are intended to be deployed in real-world use cases. We investigated the robustness of several transformer neural language models, i.e. BioBERT, SciBERT, BioMed-RoBERTa, and Bio-ClinicalBERT, on a wide range of biomedical and clinical text processing tasks. We implemented various adversarial attack methods to test the NLP systems in different attack scenarios. Experimental results showed that the biomedical NLP models are sensitive to adversarial samples; their performance dropped in average by 21 and 18.9 absolute percent on character-level and word-level adversarial noise, respectively, on Micro-F1, Pearson Correlation, and Accuracy measures. Conducting extensive adversarial training experiments, we fine-tuned the NLP models on a mixture of clean samples and adversarial inputs. Results showed that adversarial training is an effective defense mechanism against adversarial noise; the models' robustness improved in average by 11.3 absolute percent. In addition, the models' performance on clean data increased in average by 2.4 absolute percent, demonstrating that adversarial training can boost generalization abilities of biomedical NLP systems. This study takes an important step towards revealing vulnerabilities of deep neural language models in biomedical NLP applications. It also provides practical and effective strategies to develop secure, trust-worthy, and accurate intelligent text processing systems in the biomedical domain.
Milad Moradi, Matthias Samwald
J. Biomed. Informatics2
2022 A study into patient similarity through representation learning from medical records
Hoda Memarzadeh, Nasser Ghadiri, Matthias Samwald, Maryam Lotfi Shahreza
Knowl. Inf. Syst.3
2022 Relational local electroencephalography representations for sleep scoring
abstract
Computational sleep scoring from multimodal neurophysiological time-series (polysomnography PSG) has achieved impressive clinical success. Models that use only a single electroencephalographic (EEG) channel from PSG have not yet received the same clinical recognition, since they lack Rapid Eye Movement (REM) scoring quality. The question whether this lack can be remedied at all remains an important one. We conjecture that predominant Long Short-Term Memory (LSTM) models do not adequately represent distant REM EEG segments (termed epochs), since LSTMs compress these to a fixed-size vector from separate past and future sequences. To this end, we introduce the EEG representation model ENGELBERT (electroEncephaloGraphic Epoch Local Bidirectional Encoder Representations from Transformer). It jointly attends to multiple EEG epochs from both past and future. Compared to typical token sequences in language, for which attention models have originally been conceived, overnight EEG sequences easily span more than 1000 30 s epochs. Local attention on overlapping windows reduces the critical quadratic computational complexity to linear, enabling versatile sub-one-hour to all-day scoring. ENGELBERT is at least one order of magnitude smaller than established LSTM models and is easy to train from scratch in a single phase. It surpassed state-of-the-art macro F1-scores in 3 single-EEG sleep scoring experiments. REM F1-scores were pushed to at least 86%. ENGELBERT virtually closed the gap to PSG-based methods from 4-5 percentage points (pp) to less than 1 pp F1-score.
Georg Brandmayr, Manfred Martin Hartmann, Franz Fürbass, Gerald Matz, Matthias Samwald, Tilmann Kluge, Georg Dorffner
Neural Networks5
2021 Evaluating the Robustness of Neural Language Models to Input Perturbations
abstract
High-performance neural language models have obtained state-of-the-art results on a wide range of Natural Language Processing (NLP) tasks.However, results for common benchmark datasets often do not reflect model reliability and robustness when applied to noisy, real-world data.In this study, we design and implement various types of character-level and wordlevel perturbation methods to simulate realistic scenarios in which input texts may be slightly noisy or different from the data distribution on which NLP systems were trained.Conducting comprehensive experiments on different NLP tasks, we investigate the ability of high-performance language models such as BERT, XLNet, RoBERTa, and ELMo in handling different types of input perturbations.The results suggest that language models are sensitive to input perturbations and their performance can decrease even when small changes are introduced.We highlight that models need to be further improved and that current benchmarks are not reflecting model robustness well.We argue that evaluations on perturbed inputs should routinely complement widely-used benchmarks in order to yield a more realistic understanding of NLP systems' robustness.
Milad Moradi, Matthias Samwald
EMNLP (1)2
2021 Post-hoc explanation of black-box classifiers using confident itemsets
abstract
Black-box Artificial Intelligence (AI) methods, e.g. deep neural networks, have been widely utilized to build predictive models that can extract complex relationships in a dataset and make predictions for new unseen data records. However, it is difficult to trust decisions made by such methods since their inner working and decision logic is hidden from the user. Explainable Artificial Intelligence (XAI) refers to systems that try to explain how a black-box AI model produces its outcomes. Post-hoc XAI methods approximate the behavior of a black-box by extracting relationships between feature values and the predictions. Perturbation-based and decision set methods are among commonly used post-hoc XAI systems. The former explanators rely on random perturbations of data records to build local or global linear models that explain individual predictions or the whole model. The latter explanators use those feature values that appear more frequently to construct a set of decision rules that produces the same outcomes as the target black-box. However, these two classes of XAI methods have some limitations. Random perturbations do not take into account the distribution of feature values in different subspaces, leading to misleading approximations. Decision sets only pay attention to frequent feature values and miss many important correlations between features and class labels that appear less frequently but accurately represent decision boundaries of the model. In this paper, we address the above challenges by proposing an explanation method named Confident Itemsets Explanation (CIE). We introduce confident itemsets, a set of feature values that are highly correlated to a specific class label. CIE utilizes confident itemsets to discretize the whole decision space of a model to smaller subspaces. Extracting important correlations between the features and the outcomes of the classifier in different subspaces, CIE produces instance-wise and class-wise explanations that accurately approximate the behavior of the target black-box. Conducting a set of experiments on various black-box classifiers, and different tabular and textual data classification tasks, we show that our CIE method performs better than the previous perturbation-based and rule-based explanators in terms of the descriptive accuracy (an improvement of 9.3%) and interpretability (an improvement of 8.8%) of the explanations. Subjective evaluations demonstrate that the users find the explanations of CIE more understandable and interpretable than those of the other comparison methods.
Milad Moradi, Matthias Samwald
Expert Syst. Appl.2
2021 Explaining Black-Box Models for Biomedical Text Classification
abstract
In this paper, we propose a novel method named Biomedical Confident Itemsets Explanation (BioCIE), aiming at post-hoc explanation of black-box machine learning models for biomedical text classification. Using sources of domain knowledge and a confident itemset mining method, BioCIE discretizes the decision space of a black-box into smaller subspaces and extracts semantic relationships between the input text and class labels in different subspaces. Confident itemsets discover how biomedical concepts are related to class labels in the black-box's decision space. BioCIE uses the itemsets to approximate the black-box's behavior for individual predictions. Optimizing fidelity, interpretability, and coverage measures, BioCIE produces class-wise explanations that represent decision boundaries of the black-box. Results of evaluations on various biomedical text classification tasks and black-box models demonstrated that BioCIE can outperform perturbation-based and decision set methods in terms of producing concise, accurate, and interpretable explanations. BioCIE improved the fidelity of instance-wise and class-wise explanations by 11.6% and 7.5%, respectively. It also improved the interpretability of explanations by 8%. BioCIE can be effectively used to explain how a black-box biomedical text classification model semantically relates input texts to class labels. The source code and supplementary material are available at https://github.com/mmoradi-iut/BioCIE.
Milad Moradi, Matthias Samwald
IEEE J. Biomed. Health Informatics2
2020 Dividing the Ontology Alignment Task with Semantic Embeddings and Logic-Based Modules
abstract
Large ontologies still pose serious challenges to stateof-the-art ontology alignment systems.In this paper we present an approach that combines a neural embedding model and logic-based modules to accurately divide an input ontology matching task into smaller and more tractable matching (sub)tasks.We have conducted a comprehensive evaluation using the datasets of the Ontology Alignment Evaluation Initiative.The results are encouraging and suggest that the proposed method is adequate in practice and can be integrated within the workflow of systems unable to cope with very large ontologies.
Ernesto Jiménez-Ruiz, Asan Agibetov, Jiaoyan Chen 0001, Matthias Samwald, Valerie V. Cross
ECAI4
2020 OpenBioLink: a benchmarking framework for large-scale biomedical link prediction
abstract
SUMMARY: Recently, novel machine-learning algorithms have shown potential for predicting undiscovered links in biomedical knowledge networks. However, dedicated benchmarks for measuring algorithmic progress have not yet emerged. With OpenBioLink, we introduce a large-scale, high-quality and highly challenging biomedical link prediction benchmark to transparently and reproducibly evaluate such algorithms. Furthermore, we present preliminary baseline evaluation results. AVAILABILITY AND IMPLEMENTATION: Source code and data are openly available at https://github.com/OpenBioLink/OpenBioLink. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Anna Breit, Simon Ott, Asan Agibetov, Matthias Samwald
Bioinform.4
2020 Summarization of biomedical articles using domain-specific word embeddings and graph ranking
Milad Moradi, Maedeh Dashti, Matthias Samwald
J. Biomed. Informatics3
2020 Benchmarking neural embeddings for link prediction in knowledge graphs under semantic and structural changes
Asan Agibetov, Matthias Samwald
J. Web Semant.2
2019 Neural sentence embedding models for semantic similarity estimation in the biomedical domain
abstract
BACKGROUND: Neural network based embedding models are receiving significant attention in the field of natural language processing due to their capability to effectively capture semantic information representing words, sentences or even larger text elements in low-dimensional vector space. While current state-of-the-art models for assessing the semantic similarity of textual statements from biomedical publications depend on the availability of laboriously curated ontologies, unsupervised neural embedding models only require large text corpora as input and do not need manual curation. In this study, we investigated the efficacy of current state-of-the-art neural sentence embedding models for semantic similarity estimation of sentences from biomedical literature. We trained different neural embedding models on 1.7 million articles from the PubMed Open Access dataset, and evaluated them based on a biomedical benchmark set containing 100 sentence pairs annotated by human experts and a smaller contradiction subset derived from the original benchmark set. RESULTS: Experimental results showed that, with a Pearson correlation of 0.819, our best unsupervised model based on the Paragraph Vector Distributed Memory algorithm outperforms previous state-of-the-art results achieved on the BIOSSES biomedical benchmark set. Moreover, our proposed supervised model that combines different string-based similarity metrics with a neural embedding model surpasses previous ontology-dependent supervised state-of-the-art approaches in terms of Pearson's r (r = 0.871) on the biomedical benchmark set. In contrast to the promising results for the original benchmark, we found our best models' performance on the smaller contradiction subset to be poor. CONCLUSIONS: In this study, we have highlighted the value of neural network-based models for semantic similarity estimation in the biomedical domain by showing that they can keep up with and even surpass previous state-of-the-art approaches for semantic similarity estimation that depend on the availability of laboriously curated ontologies, when evaluated on a biomedical benchmark set. Capturing contradictions and negations in biomedical sentences, however, emerged as an essential area for further work.
Kathrin Blagec, Hong Xu 0016, Asan Agibetov, Matthias Samwald
BMC Bioinform.4
2018 Fast and scalable neural embedding models for biomedical sentence classification
abstract
BACKGROUND: Biomedical literature is expanding rapidly, and tools that help locate information of interest are needed. To this end, a multitude of different approaches for classifying sentences in biomedical publications according to their coarse semantic and rhetoric categories (e.g., Background, Methods, Results, Conclusions) have been devised, with recent state-of-the-art results reported for a complex deep learning model. Recent evidence showed that shallow and wide neural models such as fastText can provide results that are competitive or superior to complex deep learning models while requiring drastically lower training times and having better scalability. We analyze the efficacy of the fastText model in the classification of biomedical sentences in the PubMed 200k RCT benchmark, and introduce a simple pre-processing step that enables the application of fastText on sentence sequences. Furthermore, we explore the utility of two unsupervised pre-training approaches in scenarios where labeled training data are limited. RESULTS: Our fastText-based methodology yields a state-of-the-art F1 score of.917 on the PubMed 200k benchmark when sentence ordering is taken into account, with a training time of only 73 s on standard hardware. Applying fastText on single sentences, without taking sentence ordering into account, yielded an F1 score of.852 (training time 13 s). Unsupervised pre-training of N-gram vectors greatly improved the results for small training set sizes, with an increase of F1 score of.21 to.74 when trained on only 1000 randomly picked sentences without taking sentence ordering into account. CONCLUSIONS: Because of it's ease of use and performance, fastText should be among the first choices of tools when tackling biomedical text classification problems with large corpora. Unsupervised pre-training of N-gram vectors on domain-specific corpora also makes it possible to apply fastText when labeled training data are limited.
Asan Agibetov, Kathrin Blagec, Hong Xu 0016, Matthias Samwald
BMC Bioinform.4
2018 Implementing pharmacogenomics decision support across seven European countries: The Ubiquitous Pharmacogenomics (U-PGx) project
abstract
Clinical pharmacogenomics (PGx) has the potential to make pharmacotherapy safer and more effective by utilizing genetic patient data for drug dosing and selection. However, widespread adoption of PGx depends on its successful integration into routine clinical care through clinical decision support tools, which is often hampered by insufficient or fragmented infrastructures. This paper describes the setup and implementation of a unique multimodal, multilingual clinical decision support intervention consisting of digital, paper-, and mobile-based tools that are deployed across implementation sites in seven European countries participating in the Ubiquitous PGx (U-PGx) project.
Kathrin Blagec, Rudolf Koopmann, Mandy Crommentuijn-van Rhenen, Inge Holsappel, Cathelijne H. van der Wouden, Lidija Konta, Hong Xu 0016, Daniela Steinberger, Enrico Just, Jesse J. Swen, Henk-Jan Guchelaar, Matthias Samwald
J. Am. Medical Informatics Assoc.12
2015 Toward a complete dataset of drug-drug interaction information from publicly available sources
abstract
Although potential drug-drug interactions (PDDIs) are a significant source of preventable drug-related harm, there is currently no single complete source of PDDI information. In the current study, all publically available sources of PDDI information that could be identified using a comprehensive and broad search were combined into a single dataset. The combined dataset merged fourteen different sources including 5 clinically-oriented information sources, 4 Natural Language Processing (NLP) Corpora, and 5 Bioinformatics/Pharmacovigilance information sources. As a comprehensive PDDI source, the merged dataset might benefit the pharmacovigilance text mining community by making it possible to compare the representativeness of NLP corpora for PDDI text extraction tasks, and specifying elements that can be useful for future PDDI extraction purposes. An analysis of the overlap between and across the data sources showed that there was little overlap. Even comprehensive PDDI lists such as DrugBank, KEGG, and the NDF-RT had less than 50% overlap with each other. Moreover, all of the comprehensive lists had incomplete coverage of two data sources that focus on PDDIs of interest in most clinical settings. Based on this information, we think that systems that provide access to the comprehensive lists, such as APIs into RxNorm, should be careful to inform users that the lists may be incomplete with respect to PDDIs that drug experts suggest clinicians be aware of. In spite of the low degree of overlap, several dozen cases were identified where PDDI information provided in drug product labeling might be augmented by the merged dataset. Moreover, the combined dataset was also shown to improve the performance of an existing PDDI NLP pipeline and a recently published PDDI pharmacovigilance protocol. Future work will focus on improvement of the methods for mapping between PDDI information sources, identifying methods to improve the use of the merged dataset in PDDI NLP algorithms, integrating high-quality PDDI information from the merged dataset into Wikidata, and making the combined dataset accessible as Semantic Web Linked Data.
Serkan Ayvaz, John R. Horn, Oktie Hassanzadeh, Qian Zhu 0003, Johann Stan, Nicholas P. Tatonetti, Santiago Vilar, Mathias Brochhausen, Matthias Samwald, Majid Rastegar-Mojarad, Michel Dumontier, Richard D. Boyce
J. Biomed. Informatics9
2013 Pharmacogenomics in the pocket of every patient? A prototype based on quick response codes
abstract
A sizable fraction of patients experiences adverse drug events or lack of drug efficacy. A part of this variability in drug response can be explained by genetic differences between patients. However, pharmacogenomic data as well as computational clinical decision support systems for interpreting such data are still unavailable in most healthcare settings. We address this problem by introducing the medicine safety code (MSC), which captures compressed pharmacogenomic data in a two-dimensional barcode that can be carried in a patient's wallet. We successfully encoded data about 385 genetic polymorphisms in MSC and were able to decode and interpret MSC quickly with common mobile devices. The MSC could make individual pharmacogenomic data and decision support available in a wide variety of healthcare settings without the set up of large-scale infrastructures or centralized databases.
Matthias Samwald, Klaus-Peter Adlassnig
J. Am. Medical Informatics Assoc.1
2012 The Arden Syntax standard for clinical decision support: Experiences and directions
abstract
Arden Syntax is a widely recognized standard for representing clinical and scientific knowledge in an executable format. It has a history that reaches back until 1989 and is currently maintained by the Health Level 7 (HL7) organization. We created a production-ready development environment, compiler, rule engine and application server for Arden Syntax. Over the course of several years, we have applied this Arden - Syntax - based CDS system in a wide variety of clinical problem domains, such as hepatitis serology interpretation, monitoring of nosocomial infections or the prediction of metastatic events in melanoma patients. We found the Arden Syntax standard to be very suitable for the practical implementation of CDS systems. Among the advantages of Arden Syntax are its status as an actively developed HL7 standard, the readability of the syntax, and various syntactic features such as flexible list handling. A major challenge we encountered was the technical integration of our CDS systems in existing, heterogeneous health information systems. To address this issue, we are currently working on incorporating the HL7 standard GELLO, which provides a standardized interface and query language for accessing data in health information systems. We hope that these planned extensions of the Arden Syntax might eventually help in realizing the vision of a global, interoperable and shared library of clinical decision support knowledge.
Matthias Samwald, Karsten Fehre, Jeroen S. de Bruin, Klaus-Peter Adlassnig
J. Biomed. Informatics1
2012 Emerging practices for mapping and linking life sciences data using RDF - A case series
abstract
Members of the W3C Health Care and Life Sciences Interest Group (HCLS IG) have published a variety of genomic and drug-related data sets as Resource Description Framework (RDF) triples. This experience has helped the interest group define a general data workflow for mapping health care and life science (HCLS) data to RDF and linking it with other Linked Data sources. This paper presents the workflow along with four case studies that demonstrate the workflow and addresses many of the challenges that may be faced when creating new Linked Data resources. The first case study describes the creation of linked RDF data from microarray data sets while the second discusses a linked RDF data set created from a knowledge base of drug therapies and drug targets. The third case study describes the creation of an RDF index of biomedical concepts present in unstructured clinical reports and how this index was linked to a drug side-effect knowledge base. The final case study describes the initial development of a linked data set from a knowledge base of small molecules. This paper also provides a detailed set of recommended practices for creating and publishing Linked Data sources in the HCLS domain in such a way that they are discoverable and usable by people, software agents, and applications. These practices are based on the cumulative experience of the Linked Open Drug Data (LODD) task force of the HCLS IG. While no single set of recommendations can address all of the heterogeneous information needs that exist within the HCLS domains, practitioners wishing to create Linked Data should find the recommendations useful for identifying the tools, techniques, and practices employed by earlier developers. In addition to clarifying available methods for producing Linked Data, the recommendations for metadata should also make the discovery and consumption of Linked Data easier.
M. Scott Marshall, Richard D. Boyce, Helena F. Deus, Jun Zhao 0003, Egon L. Willighagen, Matthias Samwald, Elgar Pichler, Janos G. Hajagos, Eric Prud'hommeaux, Susie Stephens
J. Web Semant.6
2010 Semantic SenseLab: Implementing the vision of the Semantic Web in neuroscience
Matthias Samwald, Huajun Chen, Alan Ruttenberg, Ernest Lim, Luis N. Marenco, Perry L. Miller, Gordon M. Shepherd, Kei-Hoi Cheung
Artif. Intell. Medicine1
2009 Approaches to neuroscience data integration
abstract
As the number of neuroscience databases increases, the need for neuroscience data integration grows. This paper reviews and compares several approaches, including the Neuroscience Database Gateway (NDG), Neuroscience Information Framework (NIF) and Entrez Neuron, which enable neuroscience database annotation and integration. These approaches cover a range of activities spanning from registry, discovery and integration of a wide variety of neuroscience data sources. They also provide different user interfaces for browsing, querying and displaying query results. In Entrez Neuron, for example, four different facets or tree views (neuron, neuronal property, gene and drug) are used to hierarchically organize concepts that can be used for querying a collection of ontologies. The facets are also used to define the structure of the query results.
Kei-Hoi Cheung, Ernest Lim, Matthias Samwald, Huajun Chen, Luis N. Marenco, Matthew Holford, Thomas M. Morse, Pradeep Mutalik, Gordon M. Shepherd, Perry L. Miller
Briefings Bioinform.3
2009 Life sciences on the Semantic Web: the Neurocommons and beyond
abstract
Translational research, the effort to couple the results of basic research to clinical applications, depends on the ability to effectively answer questions using information that spans multiple disciplines. The Semantic Web, with its emphasis on combining information using standard representation languages, access to that information via standard web protocols, and technologies to leverage computation, such as in the form of inference and distributable query, offers a social and technological basis for assembling, integrating and making available biomedical knowledge at Web scale. In this article, we discuss the use of Semantic Web technology for assembling and querying biomedical knowledge from multiple sources and disciplines. We present the Neurocommons prototype knowledge base, a demonstration intended to show the feasibility and benefits of using these technologies. The prototype knowledge base can be used to experiment with and assess the scalability of current tools and methods for creating such a resource, and to elicit issues that will need to be addressed in order to expand the scope and use of it. We demonstrate the utility of the knowledge base by reviewing a few example queries that provide answers to precise questions relevant to the understanding of disease. All components of the knowledge base are freely available at http://neurocommons.org/, enabling readers to reconstruct the knowledge base and experiment with this new technology.
Alan Ruttenberg, Jonathan Rees, Matthias Samwald, M. Scott Marshall
Briefings Bioinform.3
2009 A journey to Semantic Web query federation in the life sciences
abstract
BACKGROUND: As interest in adopting the Semantic Web in the biomedical domain continues to grow, Semantic Web technology has been evolving and maturing. A variety of technological approaches including triplestore technologies, SPARQL endpoints, Linked Data, and Vocabulary of Interlinked Datasets have emerged in recent years. In addition to the data warehouse construction, these technological approaches can be used to support dynamic query federation. As a community effort, the BioRDF task force, within the Semantic Web for Health Care and Life Sciences Interest Group, is exploring how these emerging approaches can be utilized to execute distributed queries across different neuroscience data sources. METHODS AND RESULTS: We have created two health care and life science knowledge bases. We have explored a variety of Semantic Web approaches to describe, map, and dynamically query multiple datasets. We have demonstrated several federation approaches that integrate diverse types of information about neurons and receptors that play an important role in basic, clinical, and translational neuroscience research. Particularly, we have created a prototype receptor explorer which uses OWL mappings to provide an integrated list of receptors and executes individual queries against different SPARQL endpoints. We have also employed the AIDA Toolkit, which is directed at groups of knowledge workers who cooperatively search, annotate, interpret, and enrich large collections of heterogeneous documents from diverse locations. We have explored a tool called "FeDeRate", which enables a global SPARQL query to be decomposed into subqueries against the remote databases offering either SPARQL or SQL query interfaces. Finally, we have explored how to use the vocabulary of interlinked Datasets (voiD) to create metadata for describing datasets exposed as Linked Data URIs or SPARQL endpoints. CONCLUSION: We have demonstrated the use of a set of novel and state-of-the-art Semantic Web technologies in support of a neuroscience query federation scenario. We have identified both the strengths and weaknesses of these technologies. While Semantic Web offers a global data model including the use of Uniform Resource Identifiers (URI's), the proliferation of semantically-equivalent URI's hinders large scale data integration. Our work helps direct research and tool development, which will be of benefit to this community.
Kei-Hoi Cheung, H. Robert Frost, M. Scott Marshall, Eric Prud'hommeaux, Matthias Samwald, Jun Zhao 0003, Adrian Paschke
BMC Bioinform.5
2008 Previewing Semantic Web Pipes
Christian Morbidoni, Danh Le Phuoc, Axel Polleres, Matthias Samwald, Giovanni Tummarello
ESWC4
2008 Simplifying Access to Large-Scale Health Care and Life Sciences Datasets
Holger Stenzhorn, Kavitha Srinivas, Matthias Samwald, Alan Ruttenberg
ESWC3
2007 Advancing translational research with the Semantic Web
abstract
BACKGROUND: A fundamental goal of the U.S. National Institute of Health (NIH) "Roadmap" is to strengthen Translational Research, defined as the movement of discoveries in basic research to application at the clinical level. A significant barrier to translational research is the lack of uniformly structured data across related biomedical domains. The Semantic Web is an extension of the current Web that enables navigation and meaningful use of digital resources by automatic processes. It is based on common formats that support aggregation and integration of data drawn from diverse sources. A variety of technologies have been built on this foundation that, together, support identifying, representing, and reasoning across a wide range of biomedical data. The Semantic Web Health Care and Life Sciences Interest Group (HCLSIG), set up within the framework of the World Wide Web Consortium, was launched to explore the application of these technologies in a variety of areas. Subgroups focus on making biomedical data available in RDF, working with biomedical ontologies, prototyping clinical decision support systems, working on drug safety and efficacy communication, and supporting disease researchers navigating and annotating the large amount of potentially relevant literature. RESULTS: We present a scenario that shows the value of the information environment the Semantic Web can support for aiding neuroscience researchers. We then report on several projects by members of the HCLSIG, in the process illustrating the range of Semantic Web technologies that have applications in areas of biomedicine. CONCLUSION: Semantic Web technologies present both promise and challenges. Current tools and standards are already adequate to implement components of the bench-to-bedside vision. On the other hand, these technologies are young. Gaps in standards and implementations still exist and adoption is limited by typical problems with early technology, such as the need for a critical mass of practitioners and installed base, and growing pains as the technology is scaled up. Still, the potential of interoperable knowledge sources for biomedicine, at the scale of the World Wide Web, merits continued work.
Alan Ruttenberg, Tim Clark, William J. Bug, Matthias Samwald, Olivier Bodenreider, Helen Chen, Donald Doherty, Kerstin Forsberg, Vipul Kashyap, June Kinoshita, Joanne S. Luciano, M. Scott Marshall, Chimezie Ogbuji, Jonathan Rees, Susie Stephens, Gwendolyn T. Wong, Elizabeth Wu, Davide Zaccagnini, Tonya Hongsermeier, Eric Neumann, Ivan Herman, Kei-Hoi Cheung
BMC Bioinform.4