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Influenza Ontology Infectious Disease Ontology Workshop 2008 Burke Squires Outline Motivation & Use case Influenza ontology development Challenges Evaluation – Joanne Luciano Motivation Players – BioHealthBase Bioinformatics Resource Center (BRC) (Richard Scheuermann) • Centers for Excellence in Influenza Research and Surveillance (CEIRS) – Gemina (Lynn Schriml) – MITRE (Bioforensics) (Joanne Luciano) Why Influenza Virus? Infectious disease 3 Pandemic in 20th Century – 1918 ~40 million deaths worldwide – 1957 – 1968 H5N1 “Bird Flu” Antigenic drift (epidemic), shift (pandemic) Influenza Structure Single stranded, negative sense RNA virus Segmented genome – 8 segments 11 Proteins Serotype (H5N1) – Hemagluttanin (16 types) – Neuraminidase (9 types) Influenza Life Cycle CEIRS Introduction Areas of Focus – Research – Surveillance Genotype-phenotype connection Motivation – Search for “assays of virulence” – Support cross-experiment comparison CEIRS Use Case Experimental data (research) Measures of virulence – Body Weight, IFNg Cytokine Quantification, Lung Titer, TNFa Cytokine Quantification Need ontology to define, connect assay data CEIRS Use Case CEIRS Surveillance Use Case Outline Motivation & use case Influenza ontology development Challenges Evaluation Influenza Ontology Development Terms Collect Define Relationships Hierarchy BFO Links Reference App (IDO) Evaluation Test Validate Collecting Terms BioHealthBase (98) CEIRS Research (44) MITRE (36) CEIRS Surveillance (125) LEMUR (96) HEDDS (48) Clinical (19) Gemina (26) Consolidated List of Terms 200 terms total – Duplicates removed Culled list of database artifacts – Database permissions Final total – ~300 terms (with parents, defined classes) Influenza Ontology Development Organize Define terms • Link • OBO Edit • Divide and conquer Search for terms • IDO • Reference Reference Ontologies Cell Ontology (CL) Common Anatomy Reference Ontology (CARO) Cell types from prokaryotic to mammalian Anatomical structures in all organisms Disease Ontology (DO) Dublin Core (DC) Environment Ontology (EnvO) Foundational Model of Anatomy (FMA) Gazetteer (GAZ) Gene Ontology (GO) Pathogen Transmission (TRANS) Phenotypic Quality Ontology (PATO) Types of human disease (InfluenzO is a subset of this ontology) Interoperable online metadata standards Habitats and environments of organisms and biological samples Structure of the mammalian and in particular the human body Geographic location, places and place names and their relationships Attributes of gene products in all organisms Relevant to both biomedical and clinical aspects of infectious diseases (InfluenzO is a subset of this ontology) Design, protocol, instrumentation and analysis applied in biomedical investigations Clinical trials and related clinical studies How a pathogen is transmitted from one host, reservoir, or source to another host Qualities of biomedical entities Protein Ontology (PRO) Relation Ontology (RO) Protein types and modifications classified on the basis of evolutionary relationships Relations in biomedical ontologies RNA Ontology (RnaO) RNA three-dimensional structures, sequence alignments, and interactions Sequence Ontology (SO) Zebrafish Anatomical Ontology (ZAO) Features and properties of nucleic acid sequences Anatomical structures in Danio rerio Infectious Disease Ontology (IDO) Ontology for Biomedical Investigations (OBI) Ontology for Clinical Investigations (OCI) Our current status Basic structure in place Adding final definitions Checking each term for reference ontology link Preparing first draft release Dec. 1 InfluenzO Assays of Virulence Outline Motivation & use case Influenza ontology development Challenges Evaluation Challenges Naming the ontology (I-IDO, InfluenzO) Logistics (geography) – Google Docs works well Lack of unified tutorial Difficulty with tools Mapping of terms to reference ontology Natural / experimental seperation – How to represent in OBO file? Evaluation Acknowledgements Core Developers – Burke Squires (BHB, CEIRS) – Joanne Luciano (MITRE) – Lynn Schriml (Gemina) Contributors – Richard Scheuermann – Meredith Keybl – Marc Colosimo – Lynette Hirschman Collaborators – Eric Bortz (MSSM) – Torsten Staab (LANL) http://sourceforge.org/ projects/InfluenzO