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Mark A. Musen1
Author list: Martin J. O’Connor1, Denise B. Warzel2, Marcos Martínez-Romero1, Josef Hardi1,
Debra Willrett1, Attila L. Egyedi1, Aras Eftekhari3, John Graybeal1, Mark A. Musen1
1Stanford University; 2National Cancer Institute; 3Attain LLC
Unleashing the value of Common Data Elements
through the CEDAR Workbench
Translating Text and Ontologies
S70
Disclosure
I and my spouse/partner have no relevant relationships with
commercial interests to disclose.
2AMIA 2019 | amia.org
3AMIA 2019 | amia.org
What is this colored picture about?
4AMIA 2017 | amia.org
[Your presentation on this and next slides]
5AMIA 2017 | amia.org
Metadata authoring is hard
6AMIA 2017 | amia.org
An analysis of metadata from NCBI’s BioSample
• 73% of “Boolean” values
• nonsmoker, former-smoker
• 26% of “integer” values
• JM52, UVPgt59.4, pig
• 68% of ontology terms
• presumed normal, wild_type
Gonçalves, R. S., & Musen, M. A. (2019). The variable quality of metadata about biological samples used in
biomedical experiments. Scientific Data, 6, 190021. https://doi.org/10.1038/sdata.2019.21
Poor metadata
FAIR Principles to enhance the value
of digital resources and their metadata
7AMIA 2019 | amia.org
Findable, Accessible, Interoperable, Reusable
https://www.nature.com/articles/sdata201618
The CEDAR approach to metadata
8AMIA 2019 | amia.org
The CEDAR approach to standards
• Operating on Big Data requires all kinds of standards
• We don’t want to be in the standards business ourselves
• We want to be able to accommodate the standards that
come from the biomedical community
• We need an adaptable infrastructure where standard
specifications are themselves editable
9AMIA 2019 | amia.org
10AMIA 2019 | amia.org
Some key features of CEDAR
• All semantic components—template elements, templates,
ontologies, and value sets—are managed as first-class entities
• User interfaces and drop-down menus are not hardcoded, but
are generated on the fly from CEDAR’s semantic content
• All software components have well defined APIs, facilitating
reuse of software by a variety of clients
• CEDAR generates all metadata in JSON-LD, a widely adopted
Web standard that can be translated into other representations
11AMIA 2019 | amia.org
CEDAR takes advantage of ontology standards
• Standard templates derived from community-based minimal
information models
• Templates rendered as frames that can be instantiated with
standard values
• Template slots filled using standard ontologies and value sets
12AMIA 2019 | amia.org
THE NATIONALCENTER FOR
BIOMEDICAL ONTOLOGY
But there are different kinds of specifications!
Templates describing classes of
experiments
Ontologies describing potential
values
Metadata (CDEs) describing
reusable question specifications
for collecting and reporting data
13AMIA 2019 | amia.org
NCI uses “common data elements” as
metadata for fields in CRFs
14AMIA 2019 | amia.org
ISO/IEC 11179
• International standard for representing metadata
• Provides:
• Guidelines for the naming and definition of data elements
• Information about the metadata that must be captured for
data elements
• Rules for the way data elements are created and
registered
15AMIA 2019 | amia.org
NCI’s Cancer Data Standards Repository (caDSR)
• One of the largest CDE registries (over 60,000 CDEs)
• Based on ISO/IEC 11179
16AMIA 2019 | amia.org
Bringing CDEs to the masses
• Practical challenges to reusing CDEs limit their adoption
by the biomedical community
• ISO/IEC 11179 does not specify implementation-level details
• Complex ISO conformance requirements
• We extended the CEDAR Workbench to support CDEs
• We incorporated over 49K caDSR CDEs into CEDAR
• These CDEs are publicly available on CEDAR
17AMIA 2019 | amia.org
We developed a CDE ingestion workflow
18AMIA 2019 | amia.org
CEDAR Repository
Metadata Creator
Metadata
Editor
https://cedar.metadatacenter.org/instances/edit/https://repo.me tadatacenter.org/template-instance s/d4f1059e-8e27-4166-902f-…
A sample study
Acute str ess disor der
Stanfor d University
John Doe
Longitudinal
Resource
Manager
https://cedar.me tadatacenter.org/dashboard?folderId=https:%2F%2Frepo.me tadatacenter.org%2Ffolders%2F232ab017-e c1e-4…
Template
Designer
https://cedar.metadatacenter.org/templates/edit/https://repo.metadatacenter.org/templates/ab105771-564e-42a1-9be4-5a63891…
CEDAR Open Services
CEDAR
CDEs
CEDAR
Fields
CEDAR
Templates
Semantic Web
Standards
CDE
Library
CEDAR Workbench
Transformation
and Ingestion
BioPortal Ontology
Repository
Biomedical
Community
49,280
caDSR CDEs
8,808 value sets
114,121 values
19AMIA 2019 | amia.org
20AMIA 2019 | amia.org
What CDEs Bring CEDAR
Template slots for experimental metadata …
• Can still refer to ontologies and value sets as the source of
values for data items
• Are able to refer to CDEs as the source of values or datatype
restrictions for data items
CEDAR is able to interoperate with both kinds of standards
Representing CDEs in CEDAR will allow authoring of
CEDAR templates that can provide the basis for eCRFs
Template FieldCase Report Form
Summary
• We extended CEDAR to natively support CDEs
• We ingested a library of over 49K CDEs and associated
value sets
• These CDEs are publicly available for general use on
CEDAR
• Users can create templates using CDE-based fields
• Users can create FAIR metadata → Enhanced data Findability
23AMIA 2019 | amia.org
Thank you!
Email me at: musen@Stanford.EDU
https://metadatacenter.org

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AMIA 2019: Unleashing the value of CDEs through CEDAR

  • 1. Mark A. Musen1 Author list: Martin J. O’Connor1, Denise B. Warzel2, Marcos Martínez-Romero1, Josef Hardi1, Debra Willrett1, Attila L. Egyedi1, Aras Eftekhari3, John Graybeal1, Mark A. Musen1 1Stanford University; 2National Cancer Institute; 3Attain LLC Unleashing the value of Common Data Elements through the CEDAR Workbench Translating Text and Ontologies S70
  • 2. Disclosure I and my spouse/partner have no relevant relationships with commercial interests to disclose. 2AMIA 2019 | amia.org
  • 3. 3AMIA 2019 | amia.org What is this colored picture about?
  • 4. 4AMIA 2017 | amia.org
  • 5. [Your presentation on this and next slides] 5AMIA 2017 | amia.org Metadata authoring is hard
  • 6. 6AMIA 2017 | amia.org An analysis of metadata from NCBI’s BioSample • 73% of “Boolean” values • nonsmoker, former-smoker • 26% of “integer” values • JM52, UVPgt59.4, pig • 68% of ontology terms • presumed normal, wild_type Gonçalves, R. S., & Musen, M. A. (2019). The variable quality of metadata about biological samples used in biomedical experiments. Scientific Data, 6, 190021. https://doi.org/10.1038/sdata.2019.21 Poor metadata
  • 7. FAIR Principles to enhance the value of digital resources and their metadata 7AMIA 2019 | amia.org Findable, Accessible, Interoperable, Reusable https://www.nature.com/articles/sdata201618
  • 8. The CEDAR approach to metadata 8AMIA 2019 | amia.org
  • 9. The CEDAR approach to standards • Operating on Big Data requires all kinds of standards • We don’t want to be in the standards business ourselves • We want to be able to accommodate the standards that come from the biomedical community • We need an adaptable infrastructure where standard specifications are themselves editable 9AMIA 2019 | amia.org
  • 10. 10AMIA 2019 | amia.org
  • 11. Some key features of CEDAR • All semantic components—template elements, templates, ontologies, and value sets—are managed as first-class entities • User interfaces and drop-down menus are not hardcoded, but are generated on the fly from CEDAR’s semantic content • All software components have well defined APIs, facilitating reuse of software by a variety of clients • CEDAR generates all metadata in JSON-LD, a widely adopted Web standard that can be translated into other representations 11AMIA 2019 | amia.org
  • 12. CEDAR takes advantage of ontology standards • Standard templates derived from community-based minimal information models • Templates rendered as frames that can be instantiated with standard values • Template slots filled using standard ontologies and value sets 12AMIA 2019 | amia.org THE NATIONALCENTER FOR BIOMEDICAL ONTOLOGY
  • 13. But there are different kinds of specifications! Templates describing classes of experiments Ontologies describing potential values Metadata (CDEs) describing reusable question specifications for collecting and reporting data 13AMIA 2019 | amia.org
  • 14. NCI uses “common data elements” as metadata for fields in CRFs 14AMIA 2019 | amia.org
  • 15. ISO/IEC 11179 • International standard for representing metadata • Provides: • Guidelines for the naming and definition of data elements • Information about the metadata that must be captured for data elements • Rules for the way data elements are created and registered 15AMIA 2019 | amia.org
  • 16. NCI’s Cancer Data Standards Repository (caDSR) • One of the largest CDE registries (over 60,000 CDEs) • Based on ISO/IEC 11179 16AMIA 2019 | amia.org
  • 17. Bringing CDEs to the masses • Practical challenges to reusing CDEs limit their adoption by the biomedical community • ISO/IEC 11179 does not specify implementation-level details • Complex ISO conformance requirements • We extended the CEDAR Workbench to support CDEs • We incorporated over 49K caDSR CDEs into CEDAR • These CDEs are publicly available on CEDAR 17AMIA 2019 | amia.org
  • 18. We developed a CDE ingestion workflow 18AMIA 2019 | amia.org CEDAR Repository Metadata Creator Metadata Editor https://cedar.metadatacenter.org/instances/edit/https://repo.me tadatacenter.org/template-instance s/d4f1059e-8e27-4166-902f-… A sample study Acute str ess disor der Stanfor d University John Doe Longitudinal Resource Manager https://cedar.me tadatacenter.org/dashboard?folderId=https:%2F%2Frepo.me tadatacenter.org%2Ffolders%2F232ab017-e c1e-4… Template Designer https://cedar.metadatacenter.org/templates/edit/https://repo.metadatacenter.org/templates/ab105771-564e-42a1-9be4-5a63891… CEDAR Open Services CEDAR CDEs CEDAR Fields CEDAR Templates Semantic Web Standards CDE Library CEDAR Workbench Transformation and Ingestion BioPortal Ontology Repository Biomedical Community 49,280 caDSR CDEs 8,808 value sets 114,121 values
  • 19. 19AMIA 2019 | amia.org
  • 20. 20AMIA 2019 | amia.org
  • 21. What CDEs Bring CEDAR Template slots for experimental metadata … • Can still refer to ontologies and value sets as the source of values for data items • Are able to refer to CDEs as the source of values or datatype restrictions for data items CEDAR is able to interoperate with both kinds of standards
  • 22. Representing CDEs in CEDAR will allow authoring of CEDAR templates that can provide the basis for eCRFs Template FieldCase Report Form
  • 23. Summary • We extended CEDAR to natively support CDEs • We ingested a library of over 49K CDEs and associated value sets • These CDEs are publicly available for general use on CEDAR • Users can create templates using CDE-based fields • Users can create FAIR metadata → Enhanced data Findability 23AMIA 2019 | amia.org
  • 24. Thank you! Email me at: musen@Stanford.EDU https://metadatacenter.org

Notes de l'éditeur

  1. CEDAR works with CDEs in two different ways. The first is as a repository of information, comparable to the CDE browser.
  2. High-level overview of the workflow of ingesting libraries of CDEs into CEDAR. CDEs from an external library are transformed to the CEDAR model and uploaded to the CEDAR Workbench via the CEDAR REST APIs. The controlled term value sets used by these CDEs are stored in BioPortal. The biomedical community can easily access and reuse the CDEs when building Web-based metadata acquisition forms. The CDEs can also be accessed via the CEDAR REST APIs.
  3. What we just described could be considered the CRF Repository mode. And it only gets confusing because CEDAR uses the same tool to represent both CRFs and CDEs. In the future, we could make adjustments to CEDAR to distinguish those two modes.