The Disease Ontology: fostering interoperability between biological and clinical human disease-related data.
Ontology highlight
ABSTRACT:
SUBMITTER: Schriml LM
PROVIDER: S-EPMC4602048 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Publications
The Disease Ontology: fostering interoperability between biological and clinical human disease-related data.
Schriml Lynn M LM Mitraka Elvira E
Mammalian genome : official journal of the International Mammalian Genome Society 20150621 9-10
The Disease Ontology (DO) enables cross-domain data integration through a common standard of human disease terms and their etiological descriptions. Standardized disease descriptors that are integrated across mammalian genomic resources provide a human-readable, machine-interpretable, community-driven disease corpus that unifies the representation of human common and rare diseases. The DO is populated by consensus-driven disease data descriptors that incorporate disease terms utilized by genomic ...[more]
Similar Datasets
Project description:BackgroundThe Cell Ontology (CL) is an OBO Foundry candidate ontology covering the domain of canonical, natural biological cell types. Since its inception in 2005, the CL has undergone multiple rounds of revision and expansion, most notably in its representation of hematopoietic cells. For in vivo cells, the CL focuses on vertebrates but provides general classes that can be used for other metazoans, which can be subtyped in species-specific ontologies.Construction and contentRecent work on the CL has focused on extending the representation of various cell types, and developing new modules in the CL itself, and in related ontologies in coordination with the CL. For example, the Kidney and Urinary Pathway Ontology was used as a template to populate the CL with additional cell types. In addition, subtypes of the class 'cell in vitro' have received improved definitions and labels to provide for modularity with the representation of cells in the Cell Line Ontology and Reagent Ontology. Recent changes in the ontology development methodology for CL include a switch from OBO to OWL for the primary encoding of the ontology, and an increasing reliance on logical definitions for improved reasoning.Utility and discussionThe CL is now mandated as a metadata standard for large functional genomics and transcriptomics projects, and is used extensively for annotation, querying, and analyses of cell type specific data in sequencing consortia such as FANTOM5 and ENCODE, as well as for the NIAID ImmPort database and the Cell Image Library. The CL is also a vital component used in the modular construction of other biomedical ontologies-for example, the Gene Ontology and the cross-species anatomy ontology, Uberon, use CL to support the consistent representation of cell types across different levels of anatomical granularity, such as tissues and organs.ConclusionsThe ongoing improvements to the CL make it a valuable resource to both the OBO Foundry community and the wider scientific community, and we continue to experience increased interest in the CL both among developers and within the user community.
| S-EPMC4932724 | biostudies-literature
Project description:BackgroundPhysical activity data provides important information on disease onset, progression, and treatment outcomes. Although analyzing physical activity data in conjunction with other clinical and microbiological data will lead to new insights crucial for improving human health, it has been hampered partly because of the large variations in the way the data are collected and presented.ObjectiveThe aim of this study was to develop a Physical Activity Ontology (PACO) to support structuring and standardizing heterogeneous descriptions of physical activities.MethodsWe prepared a corpus of 1140 unique sentences collected from various physical activity questionnaires and scales as well as existing standardized terminologies and ontologies. We extracted concepts relevant to physical activity from the corpus using a natural language processing toolkit called Multipurpose Text Processing Tool. The target concepts were formalized into an ontology using Protégé (version 4). Evaluation of PACO was performed to ensure logical and structural consistency as well as adherence to the best practice principles of building an ontology. A use case application of PACO was demonstrated by structuring and standardizing 36 exercise habit statements and then automatically classifying them to a defined class of either sufficiently active or insufficiently active using FaCT++, an ontology reasoner available in Protégé.ResultsPACO was constructed using 268 unique concepts extracted from the questionnaires and assessment scales. PACO contains 225 classes including 9 defined classes, 20 object properties, 1 data property, and 23 instances (excluding 36 exercise statements). The maximum depth of classes is 4, and the maximum number of siblings is 38. The evaluations with ontology auditing tools confirmed that PACO is structurally and logically consistent and satisfies the majority of the best practice rules of ontology authoring. We showed in a small sample of 36 exercise habit statements that we could formally represent them using PACO concepts and object properties. The formal representation was used to infer a patient activity status category of sufficiently active or insufficiently active using the FaCT++ reasoner.ConclusionsAs a first step toward standardizing and structuring heterogeneous descriptions of physical activities for integrative data analyses, PACO was constructed based on the concepts collected from physical activity questionnaires and assessment scales. PACO was evaluated to be structurally consistent and compliant to ontology authoring principles. PACO was also demonstrated to be potentially useful in standardizing heterogeneous physical activity descriptions and classifying them into clinically meaningful categories that reflect adequacy of exercise.
| S-EPMC6658272 | biostudies-literature
Project description:Data from the electronic medical record comprise numerous structured but uncoded elements, which are not linked to standard terminologies. Reuse of such data for secondary research purposes has gained in importance recently. However, the identification of relevant data elements and the creation of database jobs for extraction, transformation and loading (ETL) are challenging: With current methods such as data warehousing, it is not feasible to efficiently maintain and reuse semantically complex data extraction and trans-formation routines. We present an ontology-supported approach to overcome this challenge by making use of abstraction: Instead of defining ETL procedures at the database level, we use ontologies to organize and describe the medical concepts of both the source system and the target system. Instead of using unique, specifically developed SQL statements or ETL jobs, we define declarative transformation rules within ontologies and illustrate how these constructs can then be used to automatically generate SQL code to perform the desired ETL procedures. This demonstrates how a suitable level of abstraction may not only aid the interpretation of clinical data, but can also foster the reutilization of methods for un-locking it.
| S-EPMC4294641 | biostudies-literature
Project description:MotivationEpilepsy is a multifaceted complex disorder that requires a precise understanding of the classification, diagnosis, treatment and disease mechanism governing it. Although scattered resources are available on epilepsy, comprehensive and structured knowledge is missing. In contemplation to promote multidisciplinary knowledge exchange and facilitate advancement in clinical management, especially in pre-clinical research, a disease-specific ontology is necessary. The presented ontology is designed to enable better interconnection between scientific community members in the epilepsy domain.ResultsThe Epilepsy Ontology (EPIO) is an assembly of structured knowledge on various aspects of epilepsy, developed according to Basic Formal Ontology (BFO) and Open Biological and Biomedical Ontology (OBO) Foundry principles. Concepts and definitions are collected from the latest International League against Epilepsy (ILAE) classification, domain-specific ontologies and scientific literature. This ontology consists of 1879 classes and 28 151 axioms (2171 declaration axioms, 2219 logical axioms) from several aspects of epilepsy. This ontology is intended to be used for data management and text mining purposes.Availability and implementationThe current release of the ontology is publicly available under a Creative Commons 4.0 License and shared via http://purl.obolibrary.org/obo/epso.owl and is a community-based effort assembling various facets of the complex disease. The ontology is also deposited in BioPortal at https://bioportal.bioontology.org/ontologies/EPIO.Supplementary informationSupplementary data are available at Bioinformatics Advances online.
| S-EPMC10067149 | biostudies-literature
Project description:BackgroundDietary habits offer crucial information on one's health and form a considerable part of the patient-generated health data. Dietary data are collected through various channels and formats; thus, interoperability is a significant challenge to reusing this type of data. The vast scope of dietary concepts and the colloquial expression style add difficulty to standardizing the data. The interoperability issues of dietary data can be addressed through Common Data Elements with metadata annotation to some extent. However, making culture-specific dietary habits and questionnaire-based dietary assessment data interoperable still requires substantial efforts.ObjectiveThe main goal of this study was to address the interoperability challenge of questionnaire-based dietary data from different cultural backgrounds by combining ontological curation and metadata annotation of dietary concepts. Specifically, this study aimed to develop a Dietary Lifestyle Ontology (DILON) and demonstrate the improved interoperability of questionnaire-based dietary data by annotating its main semantics with DILON.MethodsBy analyzing 1158 dietary assessment data elements (367 in Korean and 791 in English), 515 dietary concepts were extracted and used to construct DILON. To demonstrate the utility of DILON in addressing the interoperability challenges of questionnaire-based multicultural dietary data, we developed 10 competency questions that asked to identify data elements sharing the same dietary topics and assessment properties. We instantiated 68 data elements on dietary habits selected from Korean and English questionnaires and annotated them with DILON to answer the competency questions. We translated the competency questions into Semantic Query-Enhanced Web Rule Language and reviewed the query results for accuracy.ResultsDILON was built with 262 concept classes and validated with ontology validation tools. A small overlap (72 concepts) in the concepts extracted from the questionnaires in 2 languages indicates that we need to pay closer attention to representing culture-specific dietary concepts. The Semantic Query-Enhanced Web Rule Language queries reflecting the 10 competency questions yielded correct results.ConclusionsEnsuring the interoperability of dietary lifestyle data is a demanding task due to its vast scope and variations in expression. This study demonstrated that we could improve the interoperability of dietary data generated in different cultural contexts and expressed in various styles by annotating their core semantics with DILON.
| S-EPMC9073603 | biostudies-literature
Project description:Glycans play a vital role in health, disease, bioenergy, biomaterials and bio-therapeutics. As a result, there is keen interest to identify and increase glycan data in bioinformatics databases like ChEBI and PubChem, and connecting them to resources at the EMBL-EBI and NCBI to facilitate access to important annotations at a global level. GlyTouCan is a comprehensive archival database that contains glycans obtained primarily through batch upload from glycan repositories, glycoprotein databases and individual laboratories. In many instances, the glycan structures deposited in GlyTouCan may not be fully defined or have supporting experimental evidence and citations. Databases like ChEBI and PubChem were designed to accommodate complete atomistic structures with well-defined chemical linkages. As a result, they cannot easily accommodate the structural ambiguity inherent in glycan databases. Consequently, there is a need to improve the organization of glycan data coherently to enhance connectivity across the major NCBI, EMBL-EBI and glycoscience databases. This paper outlines a workflow developed in collaboration between GlyGen, ChEBI and PubChem to improve the visibility and connectivity of glycan data across these resources. GlyGen hosts a subset of glycans (~29,000) from the GlyTouCan database and has submitted valuable glycan annotations to the PubChem database and integrated over 10,500 (including ambiguously defined) glycans into the ChEBI database. The integrated glycans were prioritized based on links to PubChem and connectivity to glycoprotein data. The pipeline provides a blueprint for how glycan data can be harmonized between different resources. The current PubChem, ChEBI and GlyTouCan mappings can be downloaded from GlyGen (https://data.glygen.org).
| S-EPMC8831707 | biostudies-literature
Project description:The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.
| S-EPMC3965098 | biostudies-literature
Project description:BackgroundModeling in systems biology is vital for understanding the complexity of biological systems across scales and predicting system-level behaviors. To obtain high-quality pathway databases, it is essential to improve the efficiency of model validation and model update based on appropriate feedback.ResultsWe have developed a new method to guide creating novel high-quality biological pathways, using a rule-based validation. Rules are defined to correct models against biological semantics and improve models for dynamic simulation. In this work, we have defined 40 rules which constrain event-specific participants and the related features and adding missing processes based on biological events. This approach is applied to data in Cell System Ontology which is a comprehensive ontology that represents complex biological pathways with dynamics and visualization. The experimental results show that the relatively simple rules can efficiently detect errors made during curation, such as misassignment and misuse of ontology concepts and terms in curated models.ConclusionsA new rule-based approach has been developed to facilitate model validation and model complementation. Our rule-based validation embedding biological semantics enables us to provide high-quality curated biological pathways. This approach can serve as a preprocessing step for model integration, exchange and extraction data, and simulation.
| S-EPMC3044316 | biostudies-literature
Project description:The main aim of this study is to teach students to take a systems perspective in understanding complex biological problems. Two lessons were designed and tested in two secondary classes (15- to 16-year-old students), using a lesson study approach. Three students from each class were observed more closely when visualizing and reasoning about two complex biological problems. The results, based on student worksheets, peer discussions, classroom observations, and interviews, indicated that students were able to visualize complex problems with the aid of a systems model based on eight system characteristics: boundary, components, interactions, input and output, feedback, hierarchy, dynamics, and emergence. Moreover, explicit scaffolds encouraged students to reason across different levels of biological organization. Based on the findings, four design guidelines were formulated: 1) Start with a central complex problem/question. 2) Let students visualize a complex biological problem using a systems model. 3) Assist students in reasoning step by step within and between the levels of biological organization. 4) Make students explicitly aware of the use of the system characteristics in various contexts. As systems thinking assists students in creating an overview of a system and reasoning about a complex problem systematically, it is also valuable outside the biology classroom.
| S-EPMC8715819 | biostudies-literature
Project description:Electronic reporting of genetic testing results is increasing, but they are often represented in diverse formats and naming conventions. Logical Observation Identifiers Names and Codes (LOINC) is a vocabulary standard that provides universal identifiers for laboratory tests and clinical observations. In genetics, LOINC provides codes to improve interoperability in the midst of reporting style transition, including codes for cytogenetic or mutation analysis tests, specific chromosomal alteration or mutation testing, and fully structured discrete genetic test reporting. LOINC terms follow the recommendations and nomenclature of other standards such as the Human Genome Organization Gene Nomenclature Committee's terminology for gene names. In addition to the narrative text they report now, we recommend that laboratories always report as discrete variables chromosome analysis results, genetic variation(s) found, and genetic variation(s) tested for. By adopting and implementing data standards like LOINC, information systems can help care providers and researchers unlock the potential of genetic information for delivering more personalized care.
| S-EPMC5566197 | biostudies-literature