Dataset Information

Enabling Web-scale data integration in biomedicine through Linked Open Data.

ABSTRACT: The biomedical data landscape is fragmented with several isolated, heterogeneous data and knowledge sources, which use varying formats, syntaxes, schemas, and entity notations, existing on the Web. Biomedical researchers face severe logistical and technical challenges to query, integrate, analyze, and visualize data from multiple diverse sources in the context of available biomedical knowledge. Semantic Web technologies and Linked Data principles may aid toward Web-scale semantic processing and data integration in biomedicine. The biomedical research community has been one of the earliest adopters of these technologies and principles to publish data and knowledge on the Web as linked graphs and ontologies, hence creating the Life Sciences Linked Open Data (LSLOD) cloud. In this paper, we provide our perspective on some opportunities proffered by the use of LSLOD to integrate biomedical data and knowledge in three domains: (1) pharmacology, (2) cancer research, and (3) infectious diseases. We will discuss some of the major challenges that hinder the wide-spread use and consumption of LSLOD by the biomedical research community. Finally, we provide a few technical solutions and insights that can address these challenges. Eventually, LSLOD can enable the development of scalable, intelligent infrastructures that support artificial intelligence methods for augmenting human intelligence to achieve better clinical outcomes for patients, to enhance the quality of biomedical research, and to improve our understanding of living systems.

SUBMITTER: Kamdar MR

PROVIDER: S-EPMC6736878 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Enabling Web-scale data integration in biomedicine through Linked Open Data.

Kamdar Maulik R MR Fernández Javier D JD Polleres Axel A Tudorache Tania T Musen Mark A MA

NPJ digital medicine 20190910

The biomedical data landscape is fragmented with several isolated, heterogeneous data and knowledge sources, which use varying formats, syntaxes, schemas, and entity notations, existing on the Web. Biomedical researchers face severe logistical and technical challenges to query, integrate, analyze, and visualize data from multiple diverse sources in the context of available biomedical knowledge. Semantic Web technologies and Linked Data principles may aid toward Web-scale semantic processing and ...[more]

PMID: 31531395

Similar Datasets

Project description:BACKGROUND: There is a growing need for efficient and integrated access to databases provided by diverse institutions. Using a linked data design pattern allows the diverse data on the Internet to be linked effectively and accessed efficiently by computers. Previously, we developed the Allie database, which stores pairs of abbreviations and long forms (LFs, or expanded forms) used in the life sciences. LFs define the semantics of abbreviations, and Allie provides a Web-based search service for researchers to look up the LF of an unfamiliar abbreviation. This service encounters two problems. First, it does not display each LF's definition, which could help the user to disambiguate and learn the abbreviations more easily. Furthermore, there are too many LFs for us to prepare a full dictionary from scratch. On the other hand, DBpedia has made the contents of Wikipedia available in the Resource Description Framework (RDF), which is expected to contain a significant number of entries corresponding to LFs. Therefore, linking the Allie LFs to DBpedia entries may present a solution to the Allie's problems. This requires a method that is capable of matching large numbers of string pairs within a reasonable period of time because Allie and DBpedia are frequently updated. RESULTS: We built a Linked Open Data set that links LFs to DBpedia titles by applying key collision methods (i.e., fingerprint and n-gram fingerprint) to their literals, which are simple approximate string-matching methods. In addition, we used UMLS resources to normalise the life science terms. As a result, combining the key collision methods with the domain-specific resources performed best, and 44,027 LFs have links to DBpedia titles. We manually evaluated the accuracy of the string matching by randomly sampling 1200 LFs, and our approach achieved an F-measure of 0.98. In addition, our experiments revealed the following. (1) Performances were similar independently from the frequency of the LFs in MEDLINE. (2) There is a relationship (r2 = 0.96, P < 0.01) between the occurrence frequencies of LFs in MEDLINE and their presence probabilities in DBpedia titles. CONCLUSIONS: The obtained results help Allie users locate the correct LFs. Because the methods are computationally simple and yield a high performance and because the most frequently used LFs in MEDLINE appear more often in DBpedia titles, we can continually and reasonably update the linked dataset to reflect the latest publications and additions to DBpedia. Joining LFs between scientific literature and DBpedia enables cross-resource exploration for mutual benefits.

Project description:With the advent of high-throughput technologies, a great wealth of variation data is being produced. Such information may constitute the basis for correlation analyses between genotypes and phenotypes and, in the future, for personalized medicine. Several databases on gene variation exist, but this kind of information is still scarce in the Semantic Web framework. In this paper, we discuss issues related to the integration of mutation data in the Linked Open Data infrastructure, part of the Semantic Web framework. We present the development of a mapping from the IARC TP53 Mutation database to RDF and the implementation of servers publishing this data.A version of the IARC TP53 Mutation database implemented in a relational database was used as first test set. Automatic mappings to RDF were first created by using D2RQ and later manually refined by introducing concepts and properties from domain vocabularies and ontologies, as well as links to Linked Open Data implementations of various systems of biomedical interest. Since D2RQ query performances are lower than those that can be achieved by using an RDF archive, generated data was also loaded into a dedicated system based on tools from the Jena software suite.We have implemented a D2RQ Server for TP53 mutation data, providing data on a subset of the IARC database, including gene variations, somatic mutations, and bibliographic references. The server allows to browse the RDF graph by using links both between classes and to external systems. An alternative interface offers improved performances for SPARQL queries. The resulting data can be explored by using any Semantic Web browser or application.This has been the first case of a mutation database exposed as Linked Data. A revised version of our prototype, including further concepts and IARC TP53 Mutation database data sets, is under development.The publication of variation information as Linked Data opens new perspectives: the exploitation of SPARQL searches on mutation data and other biological databases may support data retrieval which is presently not possible. Moreover, reasoning on integrated variation data may support discoveries towards personalized medicine.

Dataset Information

Enabling Web-scale data integration in biomedicine through Linked Open Data.

Publications

Enabling Web-scale data integration in biomedicine through Linked Open Data.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets