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Linking Animal Models to Human Diseases

Linking Animal Models to Human Diseases. Supported by NIH P41 HG002659 and U54 HG004028 the University of Oregon, Eugene, OR. ZFIN: Melissa Haendel Doug Howe Erik Segerdell Sierra Taylor. FlyBase: Micael Ashburner Rachel Drysdale George Gkoutos. Goals

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Linking Animal Models to Human Diseases

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  1. Linking Animal Models to Human Diseases Supported by NIH P41 HG002659 and U54 HG004028 the University of Oregon, Eugene, OR

  2. ZFIN: Melissa Haendel Doug Howe Erik Segerdell Sierra Taylor FlyBase: Micael Ashburner Rachel Drysdale George Gkoutos

  3. Goals Annotate mutant phenotypes Identify human disease models Strategy Progress

  4. Animal disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  5. Animal disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  6. Animal disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  7. Goals Annotate mutant phenotypes Identify human disease models Strategy Progress

  8. Phenotype (clinical sign) = entity + attribute + value P1 = eye + placement + hypoteloric + P2 = midface + development hypoplastic + P3 = kidney + size hypertrophied shh-/-(holoprosencephaly)

  9. Phenotype (clinical sign) = entity + attribute + value Anatomical ontology Cell & tissue ontology Developmental ontology Gene ontology biological process molecular function cellular component + PATO (phenotype and trait ontology)

  10. Phenotype (clinical sign) = entity + attribute + value P1 = eye + placement + hypoteloric + P2 = midface + development hypoplastic + P3 = kidney + size hypertrophied Syndrome = P1 + P2 + P3 (disease) = holoprosencephaly

  11. Zebrafish shh Human holo- prosencephaly Zebrafish oep

  12. Goals Annotate mutant phenotypes Identify human disease models Strategy Progress

  13. OMIM genes ZFIN mutant genes FlyBase mutant genes

  14. PATO development(underway): Curator interface development(underway) Trial curation of ZFIN & FlyBase publications + OMIM (future)

  15. PATO development(underway): • Anatomical Ontology cleanup • PATO cleanup Curator interface development(underway) Trial curation of ZFIN & FlyBase publications + OMIM (future)

  16. Resolving AO differences between ZFIN and FlyBase ZFIN: part start_stage (where stages are stored end_stage in separate ontology) FlyBase: stage1 stage 2 … part1 part1 part2 part2

  17. Entity Attribute Value eye + placement hypoteloric + Entity Attribute eye + hypoteloric

  18. AO PATO Curator interface Trial curation

  19. AO PATO Curator interface Trial curation User interface

  20. PATO development(underway): • Anatomical Ontology cleanup • PATO cleanup • Initial curation of fish phenotypes - portable database for research labs • CToL - taxonomy & phylogenies Curator interface development(underway) Trial curation of ZFIN & FlyBase publications + OMIM (future)

  21. Goals Annotate mutant phenotypes Identify human disease models Strategy Progress

  22. Supported by NIH P41 HG002659 and U54 HG004028 the University of Oregon, Eugene, OR

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