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Phenotype Database and Data Mining at RGD
                                                                                                                                                                              Mary Shimoyama
                                                                 Rat Genome Database, Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin


  ABSTRACT: There has been an emergence of multiple large
  scale phenotype projects in the rat model organism
  community as well as renewed interest in the ongoing
                                                                                                                                                             Standardizing Phenotype Data with Ontologies
  phenotype data generated by thousands of researchers
  using hundreds of rat strains. In order to provide ready
  access to such data, the Rat Genome Database (RGD),
  http://rgd.mcw.edu is developing a Rat Phenome Database,
  http://rgd.mcw.edu/phenotypes . To integrate data from
                                                                                                                                                                                       1                                              2                 3                                   4
  multiple datasets and published literature, RGD is
  developing a Rat Strain Taxonomy 1 and three ontologies
  to standardize the major aspects of phenotype records:                                                      Study
                                                                                                                                                                               Strain Taxonomy                      Clinical Measurement    Measurement                         Experimental
  Clinical Measurement Ontology       2 Measurement Method
  Ontology 3 and Experimental Conditions Ontology 4
                                                                          Researcher                                                     Experiment
                                                                                                                                                                                                                                              Method                             Conditions
   In a pilot study phenotype data from Physgen
  http://pga.mcw.edu the National BioResource Project for the
  Rat in Japan http://www.anim.med.kyoto-u.ac.jp/nbr/ and                                                   Experimental
  data from published literature were integrated.                                                           Conditions
                                                                                                                                                Clinical
                                                                   Sample
                                                                                                                                                Measurement

  A data mining tool was developed to leverage the utility of
                                                                                          Experimental
  the ontologies. 5 Users may begin their search with any of                           Condition Ontology
                                                                                                                       Clinical Measurement
                                                                                                                               Ontology
  the four components of the phenotype data. In the example,
  the user chooses a Clinical Measurement 6 followed by a          Strain Ontology
                                                                                                                                               Measurement
                                                                                                                                               Assay type
                                                                                                                                               Method
                                                                                                                                               Ontology
                                                                                                                                                 Ontology
  filter for Measurement Method 7 and Experimental
  Conditions 8 and finally limits the search by Strain      9                                       Ontology/Vocabulary

  The tool keeps track of the search parameters and provides
  a running count of records retrieved. Only filter choices
  applicable to set parameters and for which there is data are
  presented to the user. Results can be downloaded in both
                                                                   Major components of phenotype data records
  summary and expanded formats        10

  Development of the ontologies for use with rat phenotypes
  continues and expansions and modifications are being
  applied for use with the human clinical data from the Family
  Blood Pressure Project in conjunction with Washington
  University School of Medicine.


                                                                                                                                                                                  Data Mining Using Ontologies
                          5                                                                                                6
                                                                                                                                                                                                                             7




Users may choose to start from any of the 4                                                                                                                                                                                                     Query parameters and record counts
                                                                                                                                                                                                                                                                                          8
phenotype components                                                                                                                                                        Tool keeps track of query and number                                shown
                                                                                                                                                                            of records returned.
                                                                                     The ontology is presented with
                                                                                     number of associated records
                                                                                                                                                                                                                   Second filter chosen
                                                                     10                                                                                                                                  9




    Results may be seen and downloaded in                                                                                                                                                                                                                                Only applicable choices for which
    summary or expanded formats                                                                                                                                                                                                                                          there are data are presented
                                                                                                                                                             Query record maintained

                                                                                                                                                                                                                                           1%
                                                       RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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Phenotype Database and Data Mining at RGD

  • 1. Phenotype Database and Data Mining at RGD Mary Shimoyama Rat Genome Database, Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin ABSTRACT: There has been an emergence of multiple large scale phenotype projects in the rat model organism community as well as renewed interest in the ongoing Standardizing Phenotype Data with Ontologies phenotype data generated by thousands of researchers using hundreds of rat strains. In order to provide ready access to such data, the Rat Genome Database (RGD), http://rgd.mcw.edu is developing a Rat Phenome Database, http://rgd.mcw.edu/phenotypes . To integrate data from 1 2 3 4 multiple datasets and published literature, RGD is developing a Rat Strain Taxonomy 1 and three ontologies to standardize the major aspects of phenotype records: Study Strain Taxonomy Clinical Measurement Measurement Experimental Clinical Measurement Ontology 2 Measurement Method Ontology 3 and Experimental Conditions Ontology 4 Researcher Experiment Method Conditions In a pilot study phenotype data from Physgen http://pga.mcw.edu the National BioResource Project for the Rat in Japan http://www.anim.med.kyoto-u.ac.jp/nbr/ and Experimental data from published literature were integrated. Conditions Clinical Sample Measurement A data mining tool was developed to leverage the utility of Experimental the ontologies. 5 Users may begin their search with any of Condition Ontology Clinical Measurement Ontology the four components of the phenotype data. In the example, the user chooses a Clinical Measurement 6 followed by a Strain Ontology Measurement Assay type Method Ontology Ontology filter for Measurement Method 7 and Experimental Conditions 8 and finally limits the search by Strain 9 Ontology/Vocabulary The tool keeps track of the search parameters and provides a running count of records retrieved. Only filter choices applicable to set parameters and for which there is data are presented to the user. Results can be downloaded in both Major components of phenotype data records summary and expanded formats 10 Development of the ontologies for use with rat phenotypes continues and expansions and modifications are being applied for use with the human clinical data from the Family Blood Pressure Project in conjunction with Washington University School of Medicine. Data Mining Using Ontologies 5 6 7 Users may choose to start from any of the 4 Query parameters and record counts 8 phenotype components Tool keeps track of query and number shown of records returned. The ontology is presented with number of associated records Second filter chosen 10 9 Results may be seen and downloaded in Only applicable choices for which summary or expanded formats there are data are presented Query record maintained 1% RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.