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Partial Integration of GO with the Ingenuity Ontology Molly James Ontology Modeling, Ingenuity System Mountain View, CA Proprietary and Confidential 1 Ingenuity Ontology • Private ontology • Stores information extracted from scientific literature • Very large ontology • 575,000 classes • 10 million instances • 370 slots • Uses frame-based knowledge representation system Proprietary and Confidential 2 High Level Classes generic_thing biological_temporal_thing property molecular_function information organism cell molecular_complex domain small_molecule gross_anatomical_part cell_component macromolecule Proprietary and Confidential 3 Ontology Construction via Downloads generic_thing biological_temporal_thing property molecular_function information organism cell molecular_complex domain small_molecule gross_anatomical_part cell_component macromolecule Subclasses are created based on information in LocusLink. Proprietary and Confidential 4 Using GO to Supplement the Ontology generic_thing Future: Add GO processes to our process branch. biological_temporal_thing property molecular_function information Add GO annotation information. organism cell molecular_complex domain Add GO functions to fill out this branch. small_molecule gross_anatomical_part macromolecule cell_component Proprietary and Confidential 5 Adding GO functions. • Took only "is-a" relationships from GO. • Excluded functions not applicable to human, mouse, or rat. • Excluded functions not part of our function model. • E.g. anticoagulant is a drug in our ontology. • Converted GO names into our naming format. • Fix duplicates that were imported. Proprietary and Confidential 6 molecular_function gene_product_function %transporter ; GO:0005215 %carrier ; GO:0005386 ; synonym:carrier type transporter transporter %electrochemical potentialdriven transporter ; GO:0015290 carrier %porter ; GO:0015291 synonym:active transporter electrochemical_potential_dash_driven_transporter polyamine_transporter porter %amino acid-polyamine transporter ; GO:0005279 ; % amino acid transporter ; GO:0015171 % polyamine transporter ; GO:0015203 amino_acid_transporter amino_acid_dash_polyamine_transporter Proprietary and Confidential 7 molecular_function gene_product_function %transporter ; GO:0005215 transporter database_id: "GO:0005215" %carrier ; GO:0005386 ; synonym:carrier type transporter %electrochemical potentialdriven transporter ; GO:0015290 carrier %porter ; GO:0015291 synonym:active transporter electrochemical_potential_dash_driven_transporter polyamine_transporter porter %amino acid-polyamine transporter ; GO:0005279 ; % amino acid transporter ; GO:0015171 % polyamine transporter ; GO:0015203 amino_acid_transporter amino_acid_dash_polyamine_transporter Proprietary and Confidential 8 Adding Functional Annotation Information information_based_thing macromolecule gene_product_function molecular_function_family_assertion_information dna_helicase recql5_hs_concept database_id: "GO:0003678", "GO:0003679" molecular_function_family_assertion_information_14336 curation_id: "LL:9400" molecular_function_family_defined_by molecular_function_family_member assertion_supported_by assertion_identifier:"GO:0003678" assertion_reference_metadata assertion_downloaded_from_database: "LocusLink" assertion_downloaded_from_database _version: "Oct 20, 2003 source_responsible_for_assertion: "Gene Ontology Annotation @ EBI" Proprietary and Confidential 9 Use of Functions in Ingenuity Pathway Analysis Proprietary and Confidential 10 Shapes indicate function Kinase Nuclear Receptor Transcription Factor Enzyme Proprietary and Confidential 11 GO Annotations are imported and displayed on NodeView pages. Proprietary and Confidential 12 Processes are used to annotate groups of genes Proprietary and Confidential 13 Aligning GO Processes with Ingenuity Processes %keratinocyte differentiation; GO:0030216 cell biological_temporal_thing keratinocyte differentiation keratinocyte_01 differentiation_01 object Proprietary and Confidential 14 www.ingenuity.com Proprietary and Confidential 15