Скачать презентацию 0 The Cancer Biomedical Informatics Grid From Village Скачать презентацию 0 The Cancer Biomedical Informatics Grid From Village

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0 The Cancer Biomedical Informatics Grid From Village to City Peter A. Covitz, Ph. 0 The Cancer Biomedical Informatics Grid From Village to City Peter A. Covitz, Ph. D. Director, Core Infrastructure National Cancer Institute Center for Bioinformatics

1 National Cancer Institute 2015 Goal Relieve suffering and death due to cancer by 1 National Cancer Institute 2015 Goal Relieve suffering and death due to cancer by the year 2015

Origins of ca. BIG 2 4 Need: Enable investigators and research teams to broadly Origins of ca. BIG 2 4 Need: Enable investigators and research teams to broadly combine and leverage their findings and expertise in order to meet NCI 2015 Goal. 4 Strategy: Create scalable, actively managed organization that will connect members of the NCI-supported cancer enterprise by building a biomedical informatics network

Scenario from Strategic Plan 3 A researcher involved in a phase II clinical trial Scenario from Strategic Plan 3 A researcher involved in a phase II clinical trial of a new molecularly targeted therapeutic for brain tumors observes that cancers derived from one specific tissue progenitor appear to be strongly affected. The trial has been generating proteomic and microarray data. The researcher would like to identify potential biochemical and signaling pathways that might be different between this cell type and other potential progenitors in cancer, deduce whether anything similar has been observed in other clinical trials involving agents known to affect these specific pathways, and identify any studies in model organisms involving tissues with similar pathway activity.

4 From Village to City 4 From Village to City

ca. BIG Principles 5 4 Open Source – Publicly-funded development must yield openly distributable ca. BIG Principles 5 4 Open Source – Publicly-funded development must yield openly distributable products. 4 Open Development – Community-driven development aligns needs with development priorities 4 Open Access – Data has value beyond original purpose for collection. Scientific method demands verification by peers. Obligation to share publiclyfunded data products. 4 Federated – Local control of deployments. No central “Ministry of Information. ” Scalable.

Community Priorities 6 Database & Datasets Imaging Tools & Databases Integration High Performance Computing Community Priorities 6 Database & Datasets Imaging Tools & Databases Integration High Performance Computing Pathways Licensing Issues Laboratory Information Management Systems (LIMS) Meeting Microarray & Gene Expression Tools Proteomics Remote/Bandwidth Visualization & Front-End Tools Statistical Data Analysis Tools Vocabulary & Ontology Tools & Databases Meta-Project Common Data Elements (CDE) & Architecture Center Integration & Management Tissue & Pathology Tools Access to Data Translational Research Tools Distributed General Data Sharing & Analysis Tools Staff Resources Clinical Data Management Tools & Databases Clinical Trial Management Systems Tissue Banks & Pathology Integrative Cancer Research 0 5 10 Number of Needs Reported 15 20 25 30 35

ca. BIG Organization Structure ca. BIG Oversight 7 General Contractor = Project Architecture Vocabularies ca. BIG Organization Structure ca. BIG Oversight 7 General Contractor = Project Architecture Vocabularies & Common Data Elements Clinical Trial Mgmt Integrative Cancer Research Tissue Banks & Pathology Tools Working Group Strategic Working Groups Working Group

Courtesy: Charlie Mead Interoperability 8 4 in·ter·op·er·a·bil·i·ty – ability of a system. . . Courtesy: Charlie Mead Interoperability 8 4 in·ter·op·er·a·bil·i·ty – ability of a system. . . to use the parts or equipment of another system Source: Merriam-Webster web site 4 interoperability – ability of two or more systems or components to exchange information and to use the information that has been exchanged. Source: IEEE Standard Computer Dictionary: A Compilation of IEEE Standard Computer Glossaries, IEEE, 1990] Syntactic interoperability Semantic interoperability

SYNTACTIC 9 SEMANTIC ca. BIG Compatibility Guidelines SEMANTIC SYNTACTIC 9 SEMANTIC ca. BIG Compatibility Guidelines SEMANTIC

10 Model-Driven Architecture 10 Model-Driven Architecture

11 11

MDA Approach 12 4 Analyze the problem space and develop the artifacts for each MDA Approach 12 4 Analyze the problem space and develop the artifacts for each scenario – Use Cases 4 Use Unified Modeling Language (UML) to standardize model representations and artifacts. Design the system by developing artifacts based on the use cases – – Class Diagram – Information Model Sequence Diagram – Temporal Behavior 4 Use meta-model tools to generate the code

Limitations of MDA 13 4 Limited expressivity for semantics 4 No facility for runtime Limitations of MDA 13 4 Limited expressivity for semantics 4 No facility for runtime semantic metadata management

14 ca. CORE MDA plus a whole lot more! 14 ca. CORE MDA plus a whole lot more!

ca. CORE 15 Bioinformatics Objects Common Data Elements Enterprise Vocabulary S E C U ca. CORE 15 Bioinformatics Objects Common Data Elements Enterprise Vocabulary S E C U R I T Y

Use Cases 16 4 Description 4 Actors 4 Basic Course 4 Alternative Course Use Cases 16 4 Description 4 Actors 4 Basic Course 4 Alternative Course

Bioinformatics Objects 17 Bioinformatics Objects 17

Common Data Elements 18 4 What do all those data classes and attributes actually Common Data Elements 18 4 What do all those data classes and attributes actually mean, anyway? 4 Data descriptors or “semantic metadata” required 4 Computable, commonly structured, reusable units of metadata are “Common Data Elements” or CDEs. 4 NCI uses the ISO/IEC 11179 standard for metadata structure and registration

Semantic metadata example: Agent 19 <Agent> <name>Taxol</name> <n. SCNumber>007</n. SCNumber> </Agent> Semantic metadata example: Agent 19 Taxol 007

Why do you need metadata? Class/ Attribute NCI Metadata CIA Metadata Example Value 20 Why do you need metadata? Class/ Attribute NCI Metadata CIA Metadata Example Value 20 Agent Chemical compound administered to a human being to treat a disease or condition, or prevent the onset of a disease or condition A sworn intelligence agent; a spy Agent n. SCNumber Identifier given to chemical compound by the US Food and Drug Administration (FDA) Nomenclature Standards Committee (NSC) Identifier given to an intelligence agent by the National Security Council 007 Agent name Common name of chemical compound used as an agent CIA code name given to intelligence agents Taxol

Cancer Data Standards Repository 21 4 ISO/IEC 11179 Registry for Common Data Elements – Cancer Data Standards Repository 21 4 ISO/IEC 11179 Registry for Common Data Elements – units of semantic metadata 4 Precise definitions of Classes, Attributes, Data Types, Permissible Values: Strong typing of data objects. 4 Tools: – – UML Loader: automatically register UML models as metadata components CDE Curation: Fine tune metadata and constrain permissible values with data standards Form Builder: Create standards-based data collection forms CDE Browser: search and export metadata components 4 Client for Enterprise Vocabulary: metadata constructed from ontology terms and concepts.

Enterprise Vocabulary Description Logic Ontologies Concept Code Relationships Preferred Name Definition Synonyms 22 Enterprise Vocabulary Description Logic Ontologies Concept Code Relationships Preferred Name Definition Synonyms 22

Tying it all together: The ca. CORE semantic management framework 23 Metadata ID 2223333 Tying it all together: The ca. CORE semantic management framework 23 Metadata ID 2223333 C 1708 2223866 2223869 2223870 2223871 Bioinformatics Objects Ontology Concept Codes C 1708: C 41243 C 1708: C 25393 C 1708: C 25683 C 1708: C 42614 Common Data Elements Enterprise Vocabulary

Computable Interoperability 24 Agent name n. SCNumber Drug C 1708 id C 1708: C Computable Interoperability 24 Agent name n. SCNumber Drug C 1708 id C 1708: C 41243 NDCCode CTEPName approval. Date FDAInd. ID approver IUPACName fda. Code My model Your model C 1708: C 41243

25 ca. CORE Software Development Kit 25 ca. CORE Software Development Kit

ca. CORE SDK Components 26 4 UML Modeling Tool (we use Enterprise Architect) – ca. CORE SDK Components 26 4 UML Modeling Tool (we use Enterprise Architect) – Information domain model defines data classes, attributes and relationships 4 Semantic Connector (included in download) – Annotates UML model with ontology concepts: bridges the world of databases to that of structured semantics 4 UML Loader (run by NCICB staff for now) – – Loads model into the ca. DSR metadata registry Model and associated semantics are available as metadata at runtime 4 Code Generator (included in download) – – UML model used as input into code generator Produces object-oriented middleware that instantiates model Object-relational mappings tie middleware to databases and other storage/retrieval systems. Programming interfaces provide access to system for application developers (Java APIs currently implemented; Web Services in upcoming release)

ca. CORE Architecture 27 Clients HTTP Clients Middleware A P I Data Web Application ca. CORE Architecture 27 Clients HTTP Clients Middleware A P I Data Web Application Server Biomedical Data Interfaces SOAP Clients Perl Clients Java Applications A P I Java SOAP XML Domain Objects [Gene, Disease, etc. ] Agent, etc. ] Data Access Objects Common Data Elements Enterprise Vocabulary

28 OTHER TOOLKITS OTHER ca. BIG SERVICE PROVIDERS NCI Cancer Center ca. Grid Cancer 28 OTHER TOOLKITS OTHER ca. BIG SERVICE PROVIDERS NCI Cancer Center ca. Grid Cancer Center

ca. Grid Service-Oriented Architecture 29 Functions Quality of Service ca. CORE Globus Workflow GRAM ca. Grid Service-Oriented Architecture 29 Functions Quality of Service ca. CORE Globus Workflow GRAM Globus Service Description Globus Toolkit Grid Communication Protocol my. Proxy GSI Transport Mobius CAS Resource Management Service Security ID Resolution Service Registry Semantic Service OGSA-DAI Globus OGSA Compliant - Service Oriented Architecture

ca. BIG Compatible Software and Data Resources 30 4 ca. Array – Cancer microarray ca. BIG Compatible Software and Data Resources 30 4 ca. Array – Cancer microarray data management system 4 C 3 D – Clinical Trials data capture application 4 C 3 PR - Clinical trial participant registry tool 4 ca. Workbench - Microarray analysis suite 4 ca. TIES - Automated free-text pathology data extraction tool 4 ca. TISSUE - Biospecimen database and tracking system 4 RProteomics - MALDI-TOF proteomics analysis tool 4 Gene Ontology Miner (GOMiner) - Tool for aggregate analysis of gene sets 4 Hap. Map - ca. BIG accessible map of haplotypes in human genome 4 Promoter Database 4 Uni. Prot-PIR - Protein sequence and annotation database 4 Curated Cancer Pathways Data - Data sets generated from NCI 60 cell lines 4 Human-Mouse Anatomy Ontology 4 Nutritional Compound Ontology *Note: Examples of upcoming 2006 Products and Data Sets 4 Distance Weighted Discrimination - Microarray data analysis integrator 4 Cancer Molecular Pages Prototype - Cancer gene annotation with web-based visualization 4 Magellan - Tool for the analysis of heterogeneous data types (e. g. , microarray) 4 Visual and Statistical Data Analyzer (VISDA) Multivariate statistical visualization tool for the analysis of complex data 4 Function. Express - Tool for integrated analysis and visualization of Microarray data 4 Quantitative Pathway Analysis in Cancer (QPACA) - Pathway modeling and analysis tool 4 Tr. APSS - Disease gene mutation discovery and analysis tool 4 Proteomics Laboratory Information Management System Prototype 4 SEED - Peer-to-Peer genome annotation tool 4 Pathways Tool Project - Pathway visualization tools 4 Lex. Grid – Ontology hosting software

NCI Andrew von Eschenbach Anna Barker Industry Partners Wendy Patterson NCICB SAIC Ken Buetow NCI Andrew von Eschenbach Anna Barker Industry Partners Wendy Patterson NCICB SAIC Ken Buetow OC BAH Sue Dubman DCTD Oracle Leslie Derr DCB Scen. Pro Frank Hartel DCP Ekagra George Komatsoulis DCEG Apelon Avinash Shanbhag DCCPS Terrapin Systems Denise Warzel CCR Panther Informatics Sherri De Coronado Dianne Reeves Gilberto Fragoso Jill Hadfield 31

ca. BIG Participant Community 9 Star Research Albert Einstein Ardais Argonne National Laboratory Burnham ca. BIG Participant Community 9 Star Research Albert Einstein Ardais Argonne National Laboratory Burnham Institute California Institute of Technology-JPL City of Hope Clinical Trial Information Service (CTIS) Cold Spring Harbor Columbia University-Herbert Irving Consumer Advocates in Research and Related Activities (CARRA) Dartmouth-Norris Cotton Data Works Development Department of Veterans Affairs Drexel University Duke University EMMES Corporation First Genetic Trust Food and Drug Administration Fox Chase Fred Hutchinson GE Global Research Center Georgetown University-Lombardi IBM Indiana University Internet 2 Jackson Laboratory Johns Hopkins-Sidney Kimmel Lawrence Berkeley National Laboratory Massachusetts Institute of Technology Mayo Clinic Memorial Sloan Kettering Meyer L. Prentis-Karmanos New York University Northwestern University-Robert H. Lurie Ohio State University-Arthur G. James/Richard Solove Oregon Health and Science University Roswell Park Cancer Institute 32 St Jude Children's Research Hospital Thomas Jefferson University-Kimmel Translational Genomics Research Institute Tulane University School of Medicine University of Alabama at Birmingham University of Arizona University of California Irvine-Chao Family University of California, San Francisco University of California-Davis University of Chicago University of Colorado University of Hawaii University of Iowa-Holden University of Michigan University of Minnesota University of Nebraska University of North Carolina-Lineberger University of Pennsylvania-Abramson University of Pittsburgh University of South Florida-H. Lee Moffitt University of Southern California-Norris University of Vermont University of Wisconsin Vanderbilt University-Ingram Velos Virginia Commonwealth University-Massey Virginia Tech Wake Forest University Washington University-Siteman Wistar Yale University