GRDR to RaDaR Transition, Follow-up Webinar

GRDR to RaDaR Transition, Follow-up Webinar

GRDR to RaDaR Transition Follow-up Webinar KENNETH GERSING, MD ANNE PARISER, MD NCATS, NIH December 4, 2017 Outline GRDR to RaDaR transition Current status Next steps GUID Informatics

Questions and discussion 2 Global Rare Diseases Patient Registry Data Repository (GRDR) 2010-2013 Phase 1: demonstration (proof-ofconcept) project 12 patient groups, established ~12 registries Registry of Common Data Elements (CDEs) Template for informed consent

Global Unique Identifier (GUID) 3 GRDR Data Mapping Results Data mapping completed Created a unified database of multiple registries Mapped to more than 20 ontologies Data ready for transfer back to patient groups Please contact Dr. Paul Avillach at Harvard BMI to arrange

4 Lessons Learned Combining existing registry data is not scalable Post Processing of data is also not scalable Need to plan for better data prior to data collection 5 Current Status An accessible data registry website has been launched RaDaR: https://rarediseases.info.nih.gov/radar Available on the website:

GUID CDEs developed during GRDR program Informed consent template 6 https://rarediseases.info.nih.gov/radar Resources on the Website 7 NCATS Toolkit for Patient-focused Drug Development

Related initiative Inclusive of tools and advice to assist patient groups with furthering their research Launched Sept 8, 2017 Largest section is on Patient Registries 8 https://rarediseases.info.nih.gov/toolkit NCATS Toolkit: Discovery Tools 9 Starting a Patient Registry/ Natural History Study Database

10 GUID Down-loadable GUID generator currently on the RaDaR site Plan for a browser-based GUID in ~2018 11 Next Steps: Living Registry Manual Help patient groups assess registry tools and approaches Focus on maximizing the impact of clinical data Data Planning Need to be harmonized with existing data standards

CDEs should focus on connecting phenotype to genotype Data Collection Need to be tiered, for example, modules for common core elements (e.g., demographics) as well as disease specific elements Disease specific data creation should be operationalized to ensure validity, reliability, and usability of information Data Sharing Need to make data reusable: easier to find, use, and cite 12

Living Textbook Cross Indexed and Article Based DB Metadata Schema LAST UPDATED: September 25, 2017 10:18 Standard "out of the box" metadata schema. Administrators have the ability to customize this schema by adding in more fields for better metadata management. This metadata is also used to create the Asset Inventory dataset. Note: The fields listed below cannot be removed from the schema. The only required field presented below is the Dataset Title. General Information Dataset Title Brief Description Category Tags / Keywords: Enter one or more keywords separated by commas Row Label: Describe what each row in the dataset represents (if applicable) Licensing & Attribution

License Type: Choose licensing terms for people who wish to use this dataset Data Provided By Source Link Semantics & RDF This section of the metadata is not commonly used, but dataset owners occasionally populate these fields to further categorize their datasets. Both items listed in this section are related to RDF, which stands for Resource Description Framework. Its a data format used to designate relationships through whats known as a graph database. Row Class and Subject Column are two optional mapping properties used within that specification. RECENTLY VIEWED ARTICLES The New Dataset Experience Introducing A New API For Metadata (13 October 2017) Asset List and Asset Inventory: Overview Sample Metadata Schema

RELATED ARTICLES Best Practices for Metadata Management Sample Metadata Schema Asset List and Asset Inventory: Overview Excel Limitations - Characters in a cell Edit dataset metadata 13 Living Textbook Inserts with Additional Information Metadata Schema LAST UPDATED: September 25, 2017 10:18 Standard "out of the box" metadata schema. Administrators have the ability to customize this schema by adding in more fields for better metadata management. This metadata is also used to create the Asset Inventory dataset. Note: The fields listed below cannot be removed from the schema. The only required field presented

below is the Dataset Title. General Information Dataset Title Brief Description Category Tags / Keywords: Enter one or more keywords separated by commas Row Label: Describe what each row in the dataset represents (if applicable) Licensing & Attribution License Type: Choose licensing terms for people who wish to use this dataset Data Provided By Source Link Semantics & RDF This section of the metadata is not commonly used, but dataset owners occasionally populate these fields to further categorize their datasets. Both items listed in this section are related to RDF, which stands for Resource Description Framework. Its a data format used to designate relationships through whats known as a graph database. Row Class and Subject Column are two optional mapping

properties used within that specification. 200 BODY [ { "id": "y8m3-sych", "name": "National Demographic Data by Zip Code", "attribution": null, "attributionLink": null, "category": null, "createdAt": "2015-03-07T20:44:37+0000", "dataUpdatedAt": null, "dataUri": "https:/ / opendata-demo.test-socrata.com/ resource/ y8m3-sych", "description": null, "domain": "opendata-demo.test-socrata.com",

"externalId": null, "hideFromCatalog": false, "hideFromDataJson": false, "license": null, "metadataUpdatedAt": "2017-05-26T17:10:43+0000", "provenance": "OFFICIAL", "updatedAt": "2016-11-04T16:46:24+0000", "webUri": "https:/ / opendata-demo.test-socrata.com/ d/ y8m3-sych", "customFields": null, "tags": null }, { "id": "mmmq-9bhf", "name": "Sales By Detailed Manufacturing Industries US 2014 And 2015", "attribution": null, "attributionLink": "https:/ / www.census.gov/ newsroom/ press-releases/ 2016/ cb16-tps156.html",

"category": "Business", "createdAt": "2017-06-15T22:22:01+0000", "dataUpdatedAt": "2017-06-15T22:22:05+0000", "dataUri": "https:/ / opendata-demo.test-socrata.com/ resource/ mmmq-9bhf", "externalId": null, "hideFromCatalog": false, 14 Questions 15

Recently Viewed Presentations

  • Chapter 18: Classification Classification of 2 different organisms

    Chapter 18: Classification Classification of 2 different organisms

    4. 1707 - 1778Carolus Linnaeus - Swedish botanist who developed system of classification that is still used today - based on close relationships of organisms.
  • BRIDGE TO BROTHERHOOD CHAPTER PRESENTATION education@akpsi.org 1.317.872.1553 akpsi.org

    BRIDGE TO BROTHERHOOD CHAPTER PRESENTATION [email protected] 1.317.872.1553 akpsi.org

    What is Bridge to Brotherhood? 5-9 week program. Focus on Education & Integration. Alpha Kappa Psi's new pledge education program is a five to nine calendar week program comprised of six educational modules, Induction, the Fraternal Exam, Mid-Term Interview, Court...
  • Dundee City Council DIRECTORATE STRUCTURE

    Dundee City Council DIRECTORATE STRUCTURE

    Dundee City Council Social Work Department Structure Dundee City Council DIRECTORATE STRUCTURE Jenni Tocher Director and Chief Officer Social Work Officer Diane McCulloch Manager Community Care Laura Bannerman Manager Strategy & Performance Section Dave Berry Manager Finance & Support Service...
  • Welcome Year 10: The Year Ahead and Meet the Tutor

    Welcome Year 10: The Year Ahead and Meet the Tutor

    DT Resistant Materials - 50%. DT Textiles - 60%. Food and Nutrition - 50%. Computing - 20% . Music - 60%. Physical education - 40%. ... Both qualifications are 100% exam; there is no coursework or controlled assessment element. 5)...
  • Question 1

    Question 1

    QUESTION 1 Long ago, people used plants to make colorful dyes. They boiled plants in water. Different plants gave off different colors. For example, boiled acorns made a light brown, and beets made a bright pink.
  • Introduction to Systematic Reviews

    Introduction to Systematic Reviews

    RevMan is used by Cochrane reviewers to manage the data extraction and analysis process. It is a free tool that is geared toward Cochrane-like reviews. GradePro is used to create summary of findings tables. Free for single-users and non-profits.
  • Choice of Scales for Delivery of Genetic Evaluations to the ...

    Choice of Scales for Delivery of Genetic Evaluations to the ...

    Choice of Scales for Delivery of Genetic Evaluations to the Public Can We Harmonize Trait Scales? International marketing and education is difficult because scales differ Advertisements cross national borders 9 of 19 full-page bull advertisements contained only pictures, no numbers!
  • THE NIGERIAN PETROLEUM INDUSTRY BILL TOOL FOR ECONOMIC

    THE NIGERIAN PETROLEUM INDUSTRY BILL TOOL FOR ECONOMIC

    *However, section 191 gives the President the power to grant discretionary award of licence. Contentious Areas of the PIB . PIB vesting ownership of oil in the FG. Deregulation. Host community Fund. Power of the petroleum minister.