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BioMedBridges WP7 - Phenobridge

WP7 Use Case: PhenoBridge Crossing the species bridge between mouse and human Infrafrontier – ELIXIR – BBMRI – INSTRUCT. BioMedBridges WP7 - Phenobridge. Work package meeting participants. Helmholtz Zentrum München ( Infrafrontier ); WP lead Martin Hrabé de Angelis Christoph Lengger

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BioMedBridges WP7 - Phenobridge

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  1. WP7 Use Case: PhenoBridgeCrossingthespeciesbridgebetweenmouseand humanInfrafrontier – ELIXIR – BBMRI – INSTRUCT

  2. BioMedBridges WP7 - Phenobridge Work package meeting participants • Helmholtz ZentrumMünchen (Infrafrontier); WP lead • Martin Hrabé de Angelis • ChristophLengger • Michael Raess • EMBL-EBI (ELIXIR) • Helen Parkinson • Damian Smedley • Terry Meehan • Gautier Koscielny • Medical University of Graz (BBMRI) • HeimoMüller • ConsortioInteruniversitare di RisonanzeMagnetiche di Metalloproteine (INSTRUCT) • Claudia Andreini

  3. BioMedBridges WP7 - Phenobridge Objectives of the work package • This use case will: • Identify and develop a set of annotations, necessary terminologies, and mappings between terminologies for human and mouse models for diabetes and obesity • Identify and group related interacting parameters in human and mouse which are involved in the development of clinical and molecular phenotypes • Formalise rules for phenotypic annotation in human and mouse to work towards automation of phenotypic discovery and develop a related prototype service.

  4. BioMedBridges WP7 - Phenobridge Deliverables: D7.1Human-mouse ontology mapping workshop (month 24) D7.2Development of co-annotated mouse-human datasets (month 36) D7.3Prototype discovery tool for mouse-human phenotype based on outputs of D7.1 and D7.2 (month 48) Milestones: MS18Annotation of mouse datasets with diabetes and obesity specific terms (month 36) MS19Annotation of human datasets with diabetes and obesity specific terms (month 36)

  5. BioMedBridges WP7 - Phenobridge Timeline: Start month 13, end month 48 D7.1Human-mouse ontology mapping workshop (month 24) D7.2Development of co-annotated mouse-human datasets (month 36) D7.3Prototype discovery tool for mouse-human phenotype based on outputs of D7.1 and D7.2 (month 48) MS18Annotation of mouse datasets with diabetes and obesity specific terms (month 36) MS19Annotation of human datasets with diabetes and obesity specific terms (month 36)

  6. BioMedBridges WP7 - Phenobridge Dataset C Dataset A Dataset B Dataset B Dataset C Dataset A 11001010111010 01100100110011 10011010111100 11001010111010 01100100110011 10011010111100 11001010111010 01100100110011 10011010111100 11001010111010 01100100110011 10011010111100 11001010111010 01100100110011 10011010111100 11001010111010 01100100110011 10011010111100 Annotations & Ontologies Annotations & Ontologies Phenobridge Bridgingthegapbetweenmouseand human datasets

  7. Disease-oriented approach Hinxton, 05.03.2012

  8. MouseFinder: mousemodels.org MouseFinder

  9. Making the mouse useful - semantics Human disease Mouse models OMIM lexical mapping small hands small front paws HPO MP logical decomposition logical decomposition PATO + CHEBI GO MPATH FMA PATO + CHEBI GO MPATH MA uberon PATO:0001673 small FMA:7197 hands PATO:0001673 small MA:0000358 paws MouseFinder

  10. BioMedBridges WP7 - Phenobridge • The nextsteps: • Check existingontologiesformouseand human datafortheircoverageandgranularity in thefieldsofobesityanddiabetes; • Involveexperts in workshoporganisedby WP7 toimprove/enhanceexistingontologieswhereneeded; • Providesample datasetsfromthe different projectstoplaywith; provide an overviewofotheravailabledatasets; • MouseFindermayprovidetheconceptforthediscoverytool;applicabilityforcomplexdiseaseslikeobesityanddiabetesneedstobeassessed.

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