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A metadata approach to query interoperation between molecular biology databases.

MOTIVATION: Molecular biology databases have been proliferating rapidly. Their heterogeneity and complexity pose a great challenge to efforts in database interoperation. To minimize the efforts of interoperating heterogeneous databases, it is useful to develop a system that lets a user of a particular genomic database access another related database as if the latter is structurally similar to the former. RESULTS: We extend a structurally simple model-the entity-attribute-value (EAV) model-to describe uniformly metadata relating to individual databases. Such metadata, which are necessary for performing database comparisons, include descriptions of primitive database objects (including entities, attributes, domain values and entity relationships) and specification of correspondences among the database objects. We show how to decompose SQL queries and map them from one database to another based on the EAV representation of the basic database objects. A prototype system is implemented to demonstrate query interoperation between two chromosome map databases. AVAILABILITY: Freely available (Cold Fusion source code and an Access database containing the mapping knowledge) upon request from the author. CONTACT: kei.cheung@yale.edu

Chromosome Mapping↗

GANESH: software for customized annotation of genome regions.

GANESH is a software package designed to support the genetic analysis of regions of human and other genomes. It provides a set of components that may be assembled to construct a self-updating database of DNA sequence, mapping data, and annotations of possible genome features. Once one or more remote sources of data for the target region have been identified, all sequences for that region are downloaded, assimilated, and subjected to a (configurable) set of standard database-searching and genome-analysis packages. The results are stored in compressed form in a relational database, and are updated automatically on a regular schedule so that they are always immediately available in their most up-to-date versions. A Java front-end, executed as a stand alone application or web applet, provides a graphical interface for navigating the database and for viewing the annotations. There are facilities for importing and exporting data in the format of the Distributed Annotation System (DAS), enabling a GANESH database to be used as a component of a DAS configuration. The system has been used to construct databases for about a dozen regions of human chromosomes and for three regions of mouse chromosomes.

Animals↗

A new data model for biological classification.

In the domain of biological classification, classifications are performed hierarchically. There are no standard classifications which are unanimously accepted by the community of each domain; many different interacting views of classification exist about the same data, and the discovery of new data results in changes to the existing classification. Even a single individual may change his or her own classification of a particular group. Since multiple classification views interact, they are semantically related. It is difficult to model this kind of dynamically evolving and semantically interacting classification system using traditional data models, which lack the structural flexibility necessary to support dynamic views of hierarchic classifications, and cannot properly capture the history of these complex interactions. We have developed a new data model which is suitable for supporting semantically interacting dynamic views of hierarchic biological classifications. On the basis of our new data model we have developed a prototype database system called HICLAS (HIerarchical CLAssification System); its domain is plant taxonomy. HICLAS is available through the Internet and an X-window interface has been implemented to support queries to classification data.

Classification↗

Database design to ensure anonymous study of medical errors: a report from the ASIPS Collaborative.

Medical error reporting systems are important information sources for designing strategies to improve the safety of health care. Applied Strategies for Improving Patient Safety (ASIPS) is a multi-institutional, practice-based research project that collects and analyzes data on primary care medical errors and develops interventions to reduce error. The voluntary ASIPS Patient Safety Reporting System captures anonymous and confidential reports of medical errors. Confidential reports, which are quickly de-identified, provide better detail than do anonymous reports; however, concerns exist about the confidentiality of those reports should the database be subject to legal discovery or other security breaches. Standard database elements, for example, serial ID numbers, date/time stamps, and backups, could enable an outsider to link an ASIPS report to a specific medical error. The authors present the design and implementation of a database and administrative system that reduce this risk, facilitate research, and maintain near anonymity of the events, practices, and clinicians.

Computer Security↗

Towards the automatic generation of biomedical sources schema.

Biologists and physicians need to access biological and medical data for their experimentations and researches. This information is available on the Internet and is scattered over many heterogeneous data sources. Collecting information is consequently tedious, time consuming and must be improved. To cope with this difficulty, our overall objective is to realize a mediator-based system to integrate heterogeneous biomedical data sources. This requires first an automatic generation of source schema, which is the goal of this work. For that, we describe an algorithm which is based on information extraction. It consists of the extraction of meta-information from each source to infer their schema. Our system enables users to access relevant and specific data, which are up-to-date. To solve the semantic heterogeneity of data sources, we are considering the creation of an ontology. Finally, the management of source evolution is discussed

Algorithms↗

Integration of genomic data in Electronic Health Records--opportunities and dilemmas.

OBJECTIVES: In this paper we give an overview about the challenge the postgenomic era poses on biomedical informaticists. The occurrence of new (genomic) data types necessitates new data models, new viewing metaphors and methods to deal with the disclosure of genomic data. We discuss integration issues when inferring phenotype and genotype data. Another challenge is to find the right phenotype to genotype data in order to get appropriate case numbers for sound clinical genotype-phenotype inference studies. METHODS: Genomic data could be integrated in an Electronic Health Record (EHR) in several ways. We describe patient-centered and pointer-based integration strategies and the corresponding data types and data models. The inference mechanisms for the interpretation of row data contain different agents. We describe vertical, horizontal and temporal agents. RESULTS: We have to deal with several new data types, not being standardized for EHR integration. Genomic data tends to be more structured than phenotype data. Beyond the development of new data models, vertical, horizontal and temporal agents have to be developed in order to link genotype and phenotype. As the genomic EHR will contain very sensitive data, confidentiality and privacy concerns have to be addressed. CONCLUSIONS: Given the necessity to capture both environment and genomic state of a patient and their interaction, clinical information systems have to be redesigned. While genotyping seems to be automatable easily, this is not the case for clinical information. More integration work on terminologies and ontologies has to be done.

Computational Biology↗

The Protein Disease Database of human body fluids: II. Computer methods and data issues.

The Protein Disease Database (PDD) is a relational database of proteins and diseases. With this database it is possible to screen for quantitative protein abnormalities associated with disease states. These quantitative relationships use data drawn from the peer-reviewed biomedical literature. Assays may also include those observed in high-resolution electrophoretic gels that offer the potential to quantitate many proteins in a single test as well as data gathered by enzymatic or immunologic assays. We are using the Internet World Wide Web (WWW) and the Web browser paradigm as an access method for wide distribution and querying of the Protein Disease Database. The WWW hypertext transfer protocol and its Common Gateway Interface make it possible to build powerful graphical user interfaces that can support easy-to-use data retrieval using query specification forms or images. The details of these interactions are totally transparent to the users of these forms. Using a client-server SQL relational database, user query access, initial data entry and database maintenance are all performed over the Internet with a Web browser. We discuss the underlying design issues, mapping mechanisms and assumptions that we used in constructing the system, data entry, access to the database server, security, and synthesis of derived two-dimensional gel image maps and hypertext documents resulting from SQL database searches.

Body Fluids↗

Heterogeneous databases integration in a hospital information systems environment: a bottom-up approach.

The paper describes the problem of heterogeneous databases, discusses the need for an integrated hospital information system and provides a five-step method for integrating heterogeneous databases in the hospital environment. The scope of this method facilitates the integration of medical, administrative and fiscal information elements of a hospital into a unified environment.

Computer Communication Networks↗

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration of databases, genome informatics and genetic analyses in an easily updated and scaleable format. To find genes involved in multifactorial diseases such as type 1 diabetes (T1D), chromosome regions are defined based on functional candidate gene content, linkage information from humans and animal model mapping information. For each region, genomic information is extracted from Ensembl, converted and loaded into ACeDB for manual gene annotation. Homology information is examined using ACeDB tools and the gene structure verified. Manually curated genes are extracted from ACeDB and read into the feature database, which holds relevant local genomic feature data and an audit trail of laboratory investigations. Public domain information, manually curated genes, polymorphisms, primers, linkage and association analyses, with links to our genotyping database, are shown in Gbrowse. This system scales to include genetic, statistical, quality control (QC) and biological data such as expression analyses of RNA or protein, all linked from a genomics integrative display. Our system is applicable to any genetic study of complex disease, of either large or small scale.

Animals↗

A radiology department intranet: development and applications.

An intranet is a "private Internet" that uses the protocols of the World Wide Web to share information resources within a company or with the company's business partners and clients. The hardware requirements for an intranet begin with a dedicated Web server permanently connected to the departmental network. The heart of a Web server is the hypertext transfer protocol (HTTP) service, which receives a page request from a client's browser and transmits the page back to the client. Although knowledge of hypertext markup language (HTML) is not essential for authoring a Web page, a working familiarity with HTML is useful, as is knowledge of programming and database management. Security can be ensured by using scripts to write information in hidden fields or by means of "cookies." Interfacing databases and database management systems with the Web server and conforming the user interface to HTML syntax can be achieved by means of the common gateway interface (CGI), Active Server Pages (ASP), or other methods. An intranet in a radiology department could include the following types of content: on-call schedules, work schedules and a calendar, a personnel directory, resident resources, memorandums and discussion groups, software for a radiology information system, and databases.

Computer Communication Networks↗

The GeneAround GO viewer.

We have developed a system for visualizing the Gene Ontology((TM)) hierarchy. The graphical browser interactively displays diagrams of the inheritance relationship for each term to help understand the meanings of terms when handling gene annotation data.

Computer Graphics↗

OntologyTraverser: an R package for GO analysis.

UNLABELLED: Gene Ontology (GO) annotations have become a major tool for analysis of genome-scale experiments. We have created OntologyTraverser--an R package for GO analysis of gene lists. Our system is a major advance over previous work because (1) the system can be installed as an R package, (2) the system uses Java to instantiate the GO structure and the SJava system to integrate R and Java and (3) the system is also deployed as a publicly available web tool. AVAILABILITY: Our software is academically available through http://franklin.imgen.bcm.tmc.edu/OntologyTraverser/. Both the R package and the web tool are accessible. CONTACT: cashaw@bcm.tmc.edu

Algorithms↗

Evaluation of Meta-1 for a concept-based approach to the automated indexing and retrieval of bibliographic and full-text databases.

SAPHIRE is a concept-based approach to information retrieval in the biomedical domain. Indexing and retrieval are based on a concept-matching algorithm that processes free text to identify concepts and map them to their canonical form. This process requires a large vocabulary containing a breadth of medical concepts and a diversity of synonym forms, which is provided by the Meta-1 vocabulary from the Unified Medical Language System Project of the National Library of Medicine. This paper describes the use of Meta-1 in SAPHIRE and an evaluation of both entities in the context of an information retrieval study.

Abbreviations as Topic↗

Survey among physicians by means of dynamic access to an Internet information server database.

Current database management systems, client-server architecture and the internet infrastructure are simplifying the exchange of information. Large and widespread electronic medical record systems are accessible via platform-independent browsing applications. The following brief summary shows one of the manifold conceivable applications of these technologies in medicine. It describes a survey among physicians with the scope of quality assurance in medicine. The dynamic, platform-independent, world-wide access to databases offers interesting aspects in medical informatics.

Computer Communication Networks↗

The Gene Set Builder: collation, curation, and distribution of sets of genes.

BACKGROUND: In bioinformatics and genomics, there are many applications designed to investigate the common properties for a set of genes. Often, these multi-gene analysis tools attempt to reveal sequential, functional, and expressional ties. However, while tremendous effort has been invested in developing tools that can analyze a set of genes, minimal effort has been invested in developing tools that can help researchers compile, store, and annotate gene sets in the first place. As a result, the process of making or accessing a set often involves tedious and time consuming steps such as finding identifiers for each individual gene. These steps are often repeated extensively to shift from one identifier type to another; or to recreate a published set. In this paper, we present a simple online tool which - with the help of the gene catalogs Ensembl and GeneLynx - can help researchers build and annotate sets of genes quickly and easily. DESCRIPTION: The Gene Set Builder is a database-driven, web-based tool designed to help researchers compile, store, export, and share sets of genes. This application supports the 17 eukaryotic genomes found in version 32 of the Ensembl database, which includes species from yeast to human. User-created information such as sets and customized annotations are stored to facilitate easy access. Gene sets stored in the system can be "exported" in a variety of output formats - as lists of identifiers, in tables, or as sequences. In addition, gene sets can be "shared" with specific users to facilitate collaborations or fully released to provide access to published results. The application also features a Perl API (Application Programming Interface) for direct connectivity to custom analysis tools. A downloadable Quick Reference guide and an online tutorial are available to help new users learn its functionalities. CONCLUSION: The Gene Set Builder is an Ensembl-facilitated online tool designed to help researchers compile and manage sets of genes in a user-friendly environment. The application can be accessed via http://www.cisreg.ca/gsb/.

Computational Biology↗

An agent- and ontology-based system for integrating public gene, protein, and disease databases.

In this paper, we describe OntoFusion, a database integration system. This system has been designed to provide unified access to multiple, heterogeneous biological and medical data sources that are publicly available over Internet. Many of these databases do not offer a direct connection, and inquiries must be made via Web forms, returning results as HTML pages. A special module in the OntoFusion system is needed to integrate these public 'Web-based' databases. Domain ontologies are used to do this and provide database mapping and unification. We have used the system to integrate seven significant and widely used public biomedical databases: OMIM, PubMed, Enzyme, Prosite and Prosite documentation, PDB, SNP, and InterPro. A case study is detailed in depth, showing system performance. We analyze the system's architecture and methods and discuss its use as a tool for biomedical researchers.

Animals↗

GIS: a biomedical text-mining system for gene information discovery.

UNLABELLED: We present a biomedical text-mining system focused on four types of gene-related information: biological functions, associated diseases, related genes and gene-gene relations. The aim of this system is to provide researchers an easy-to-use bio-information service that will rapidly survey the rapidly burgeoning biomedical literature. AVAILABILITY: http://iir.csie.ncku.edu.tw/~yuhc/gis/

Abstracting and Indexing↗

Interactive volume reconstruction and measurement on the Grid.

OBJECTIVES: To prove the advantages of integrating grid computing within medical image analysis software, and to discuss the technological, sociological and health care-related issues. METHODS: Presentation of an instant volume reconstruction and measurement tool (PTM3D) used in clinical practice, including percutaneous nephrolithotomy examples; description of a parallel implementation of volume reconstruction, evaluation of this implementation on lung and body reconstruction, presentation of the technical limitations for clinical use and description and discussion of a prototype grid implementation. RESULTS: Volume reconstruction can broaden its medical scope and use by accessing high-performance computing systems; interactive exploration of medical images can co-exist with the usual batch workload of grid systems; the EGEE grid middleware offers some of the required core services; a fully adequate computing environment needs further evolution to integrate realtime constraints. CONCLUSIONS: Clinical experiments of a grid-enabled PTM3D become possible. Widespread adoption of grid technology in the medical images analysis field will benefit from this "early user" project. Convergences appear between two broadly different fields, high energy physics and medical image, towards the need of a smooth integration of the new resources offered by grid systems into the everyday tools of their respective end-users. It can be expected that the convergence will mature towards truly interactive grids, able to serve the needs of the medical community.

Algorithms↗