Advanced Biomedical Ontology: Difference between revisions

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==August 31: Systems and techniques for representing biomedical data, information and knowledge in ontologies (WC)==
==August 31: Systems and techniques for representing biomedical data, information and knowledge in ontologies (WC)==
:SLO ([http://ncor.buffalo.edu/2017/SLO.htm Student Learning Outcomes]) 4, 5  
SLO ([http://ncor.buffalo.edu/2017/SLO.htm Student Learning Outcomes]) 4, 5  


Advance reading
Advance reading
Line 44: Line 44:
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==September 7: Best practice principles for building domain ontologies, terms, and definitions(BS)==
==September 7: Best practice principles for building domain ontologies, terms, and definitions (BS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1


:Today is the deadline for selection of the '''topic''' for your term papers to be presented at the end of the semester. The topic can be any aspect of biomedical ontology research (including where relevant topics related to your PhD research). The deadline for submission of 300-400 word abstracts is October 12.
:Today is the deadline for selection of the '''topic''' for your term papers to be presented at the end of the semester. The topic can be any aspect of biomedical ontology research (including where relevant topics related to your PhD research). The deadline for submission of 300-400 word abstracts is October 12.
Line 53: Line 53:
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==September 14: Basic Formal Ontology (BS)==
==September 14: Basic Formal Ontology (BS) and the Ontology for General Medical Science (OGMS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 2
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 2


Advance reading
Advance reading
:Arp R, Smith B, Spear AD. ''Building Ontologies with Basic Formal Ontology''. MIT Press, 2015, chapters 5-6.
:Arp R, Smith B, Spear AD. ''Building Ontologies with Basic Formal Ontology''. MIT Press, 2015, chapters 5-6.
:Scheuermann RH, Ceusters W, Smith B. "[https://www.researchgate.net/profile/Barry_Smith4/publication/49967856_Toward_an_Ontological_Treatment_of_Disease_and_Diagnosis/links/02e7e52e910d257efd000000/Toward-an-Ontological-Treatment-of-Disease-and-Diagnosis.pdf Toward an ontological treatment of disease and diagnosis]," ''Summit Transl Bioinform'', 2009 Mar 1;2009:116-20.
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==September 21: Introduction to Protégé ontology editor and add-on tools (Neil Otte)==
==September 21: Introduction to the Protégé ontology editor and add-on tools (Neil Otte)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7


Advance reading
Advance reading
:[http://protegewiki.stanford.edu/wiki/WebProtegeUsersGuide Web Protégé User Guide]
:[http://protegewiki.stanford.edu/wiki/WebProtegeUsersGuide Web Protégé User Guide]


After-class exercise (due date: September 26): Implement in Protégé terms and definitions from:
After-class exercise : Implement in Protégé terms and definitions from Scheuermann et al. (Due date: September 26.)
:Scheuermann RH, Ceusters W, Smith B. "[https://www.researchgate.net/profile/Barry_Smith4/publication/49967856_Toward_an_Ontological_Treatment_of_Disease_and_Diagnosis/links/02e7e52e910d257efd000000/Toward-an-Ontological-Treatment-of-Disease-and-Diagnosis.pdf Toward an ontological treatment of disease and diagnosis]," ''Summit Transl Bioinform'', 2009 Mar 1;2009:116-20.
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----


==September 28: The Ontology for General Medical Science (OGMS) (BS)==
==September 28: BFO, OGMS and the OBO Foundry (BS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3


This session will include a review of the after-class exercises from the previous week.
This session will include a review of the after-class exercises submitted on September 26.
 
Advance reading
Barry Smith, et al., “[http://www.nature.com/nbt/journal/v25/n11/pdf/nbt1346.pdf The OBO Foundry: Coordinated Evolution of Ontologies to Support Biomedical Data Integration]”, Nature Biotechnology, 25 (11), November 2007, 1251-1255. PMC2814061
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Line 80: Line 85:
:5:00pm: How to Write Grants (BS)
:5:00pm: How to Write Grants (BS)
:6:30pm: How to Get Published in High Impact Journals (BS)
:6:30pm: How to Get Published in High Impact Journals (BS)
----


==October 5: Using referent tracking for building ontologies (WC)==
==October 5: Using referent tracking for building ontologies (WC)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1, 2, 4, 6
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1, 2, 4, 6


Advance reading
Advance reading
Line 92: Line 98:
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----


==October 12: Building an ontology. (WC)==
==October 12: Building an ontology (WC)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7


Team exercise
Team exercise
Line 106: Line 112:
:Ceusters W, Capolupo M, De Moor G, Devlies J, Smith B. "[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103706/ An Evolutionary Approach to Realism-Based Adverse Event Representations]," ''Methods of Information in Medicine'', 2011;50(1):62-73.
:Ceusters W, Capolupo M, De Moor G, Devlies J, Smith B. "[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103706/ An Evolutionary Approach to Realism-Based Adverse Event Representations]," ''Methods of Information in Medicine'', 2011;50(1):62-73.
:Souvignet J, Rodrigues JM. "[http://ebooks.iospress.nl/publication/39316 Toward a patient safety upper level ontology]," ''Stud Health Technol Inform''. 2015;210:160-4.
:Souvignet J, Rodrigues JM. "[http://ebooks.iospress.nl/publication/39316 Toward a patient safety upper level ontology]," ''Stud Health Technol Inform''. 2015;210:160-4.
----
October 17 (Optional extra session): Core Competency Lectures==
:Venue TBA
:5:00-6:30pm: Data Ethics and Responsible Data Sharing (BS)
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==October 19: Review of term-paper abstracts (WC, BS)==
==October 19: Review of term-paper abstracts (WC, BS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7


Class participants will be divided into groups. Each group will review critically the 300-400 word abstracts received from the members of other groups on or before October 12. At the end of today's meeting they will present their results in the style of a journal peer review, including where necessary a statement of majority and minority opinions.
Class participants will be divided into groups. Each group will review critically the 300-400 word abstracts received from the members of other groups on or before October 12. At the end of today's meeting they will present their results in the style of a journal peer review, including where necessary a statement of majority and minority opinions.
Line 115: Line 126:


==October 26 Principles for ontology change management in biomedical information systems (WC)==
==October 26 Principles for ontology change management in biomedical information systems (WC)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 8
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 8


Advance reading
Advance reading
Line 126: Line 137:


==November 2 Ontological principles for combining healthcare data in big data repositories (WC,BS)==
==November 2 Ontological principles for combining healthcare data in big data repositories (WC,BS)==
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 4, 5, 7


Advance reading:
Advance reading:
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 4, 5, 7
:Ceusters W, Hsu CY, Smith B. "[http://www.referent-tracking.com/RTU/sendfile/?file=ICBO2014-CeustersHsuSmith-FinalCameraReady.pdf Clinical Data Wrangling using Ontological Realism and Referent Tracking]", ''International Conference on Biomedical Ontologies'' (ICBO 2014), CEUR Workshop Proceedings 2014;1237:27-32.
:Ceusters W, Hsu CY, Smith B. "[http://www.referent-tracking.com/RTU/sendfile/?file=ICBO2014-CeustersHsuSmith-FinalCameraReady.pdf Clinical Data Wrangling using Ontological Realism and Referent Tracking]", ''International Conference on Biomedical Ontologies'' (ICBO 2014), CEUR Workshop Proceedings 2014;1237:27-32.


Line 135: Line 146:


==November 9 Team exercise: use OGMS to improve biomedical informatics resources (WC, BS)==
==November 9 Team exercise: use OGMS to improve biomedical informatics resources (WC, BS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7


Advance reading
Advance reading
Line 142: Line 153:


==November 16 Evaluation of ontologies (WC, BS)==
==November 16 Evaluation of ontologies (WC, BS)==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 4, 6, 8
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 4, 6, 8


Advance reading
Advance reading
Line 152: Line 163:


==November 30 Student presentations 1==
==November 30 Student presentations 1==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 6, 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 6, 7
 
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==December 7 Student presentations 2==
==December 7 Student presentations 2==
:[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1, 4
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1, 4

Revision as of 17:42, 26 June 2017

Advanced Topics in Biomedical Ontology

Department of Biomedical Informatics and Department of Philosophy

Type of Instruction: Seminar
Class Numbers: BMI 708 SEM, PHI 637 SEM
Semester: Fall 2017

• Thursday: 4pm to 6:50pm

• Number of Credits: 3

• Course prerequisites: BMI508 or PHI548 or PHI549.

• Instructors

Biomedical Informatics: Werner Ceusters, MD. Contact: 77 Goodell Street, 5th floor, by

appointment only through wceusters@gmail.com

Philosophy: Barry Smith, PhD. Contact: 126 Park Hall, N Campus, by appointment only through

phismith@buffalo.edu

Course Description

The course begins with a review of the theories underlying biomedical knowledge representation and ontology. The methods and tools for applied ontology as well as the management and maintenance of biomedical ontologies will be discussed in detail, including the principles of ontological realism and the implementation thereof in the Basic Formal Ontology (BFO). Students will gain experience with the Web Ontology Language (OWL) and the limitations thereof, and with utilities to query ontologies expressed in OWL. The course will also provide an in-depth review of current research underlying the development of biomedical ontologies as well as a comparative critical analysis of the major current biomedical ontologies and of the methods and tools used in their application, development and evaluation.

Course Organization

The course begins with a review of the biomedical/clinical research and information dissemination system that results in the generation of new knowledge and its dissemination into clinical health care practice. This review will also include the current systems and techniques that have been used to model, represent and maintain our biomedical data, information and knowledge for use by clinicians and researchers. The remainder of the course will provide an in-depth review of current theories, methods and tools for the development of ontologies for the organization and management of biomedical data, information and knowledge as well as a critical comparative analysis of the major current biomedical ontologies used in health care and biomedical research settings.


August 31: Systems and techniques for representing biomedical data, information and knowledge in ontologies (WC)

SLO (Student Learning Outcomes) 4, 5

Advance reading

Yu, A.C., "in Biomedical Ontology", Journal of Biomedical Informatics 39 (2006) 252–266.
Robert Hoehndorf, Paul N. Schofield and Georgios V. Gkoutos, "The role of ontologies in biological and biomedical research: a functional perspective", Briefings in Bioinformatics, 2015, 1–12

September 7: Best practice principles for building domain ontologies, terms, and definitions (BS)

SLO 1

Today is the deadline for selection of the topic for your term papers to be presented at the end of the semester. The topic can be any aspect of biomedical ontology research (including where relevant topics related to your PhD research). The deadline for submission of 300-400 word abstracts is October 12.

Advance reading

Arp R, Smith B, Spear AD. Building Ontologies with Basic Formal Ontology. MIT Press, 2015, chapters 3-4.

September 14: Basic Formal Ontology (BS) and the Ontology for General Medical Science (OGMS)

SLO 2

Advance reading

Arp R, Smith B, Spear AD. Building Ontologies with Basic Formal Ontology. MIT Press, 2015, chapters 5-6.
Scheuermann RH, Ceusters W, Smith B. "Toward an ontological treatment of disease and diagnosis," Summit Transl Bioinform, 2009 Mar 1;2009:116-20.

September 21: Introduction to the Protégé ontology editor and add-on tools (Neil Otte)

SLO 7

Advance reading

Web Protégé User Guide

After-class exercise : Implement in Protégé terms and definitions from Scheuermann et al. (Due date: September 26.)


September 28: BFO, OGMS and the OBO Foundry (BS)

SLO 3

This session will include a review of the after-class exercises submitted on September 26.

Advance reading Barry Smith, et al., “The OBO Foundry: Coordinated Evolution of Ontologies to Support Biomedical Data Integration”, Nature Biotechnology, 25 (11), November 2007, 1251-1255. PMC2814061


October 3 (Optional extra session): Core Competency Lectures

Venue TBA
5:00pm: How to Write Grants (BS)
6:30pm: How to Get Published in High Impact Journals (BS)

October 5: Using referent tracking for building ontologies (WC)

SLO 1, 2, 4, 6

Advance reading

Arp R, Smith B, Spear AD. Building Ontologies with Basic Formal Ontology. MIT Press, 2015, chapter 7.
Hogan WR and Ceusters W. Diagnosis, misdiagnosis, lucky guess, hearsay, and more: an ontological analysis. Journal of Biomedical Semantics 2016;7(54).

After-class exercise

Read Alert fatigue and propose the terms and definitions which need to be added to OGMS to create an ontology to address alert fatigue in EHRs. Due date: October 11

October 12: Building an ontology (WC)

SLO 7

Team exercise

Class participants will be divided into groups. The task for each group will be
1. to identify some area in which ontology methods can be of value in understanding issues related to patient well-being, along the lines illustrated in the advance readings by Ceusters et al., and Souvignet et al. listed below.
2. to propose terms and definitions which need to be added to OGMS to create an ontology .
3. results to be made available electronically by the end of class.
Today is the deadline for submission of 300-400 word abstracts for your term papers. These abstracts will be critically reviewed in the meeting on October 19.

Advance readings:

Ceusters W, Capolupo M, De Moor G, Devlies J, Smith B. "An Evolutionary Approach to Realism-Based Adverse Event Representations," Methods of Information in Medicine, 2011;50(1):62-73.
Souvignet J, Rodrigues JM. "Toward a patient safety upper level ontology," Stud Health Technol Inform. 2015;210:160-4.

October 17 (Optional extra session): Core Competency Lectures==

Venue TBA
5:00-6:30pm: Data Ethics and Responsible Data Sharing (BS)

October 19: Review of term-paper abstracts (WC, BS)

SLO 3, 7

Class participants will be divided into groups. Each group will review critically the 300-400 word abstracts received from the members of other groups on or before October 12. At the end of today's meeting they will present their results in the style of a journal peer review, including where necessary a statement of majority and minority opinions.


October 26 Principles for ontology change management in biomedical information systems (WC)

SLO 8

Advance reading

Ceusters W. "Applying Evolutionary Terminology Auditing to the Gene Ontology", Journal of Biomedical Informatics 2009;42:518–529.
Ceusters W. "SNOMED CT Revisions and Coded Data Repositories: When to Upgrade?" American Medical Informatics Association 2011 Annual Symposium Proceedings, Washington DC, October 22-26, 2011:197-206

Assignment post-lecture

Correct and improve the results of the exercises described under Sep. 21, Oct. 5 and Oct. 12 above, adhering to the principles of change management outlined on Oct. 26.

November 2 Ontological principles for combining healthcare data in big data repositories (WC,BS)

SLO 4, 5, 7

Advance reading:

Ceusters W, Hsu CY, Smith B. "Clinical Data Wrangling using Ontological Realism and Referent Tracking", International Conference on Biomedical Ontologies (ICBO 2014), CEUR Workshop Proceedings 2014;1237:27-32.

Assess the extent to which the ontology resulting from the post-lecture assignment from Oct. 12 can be used to facilitate combining healthcare data in big data repositories.


November 9 Team exercise: use OGMS to improve biomedical informatics resources (WC, BS)

SLO 3, 7

Advance reading

Observational Medical Outcomes Partnership Common Data Model

November 16 Evaluation of ontologies (WC, BS)

SLO 4, 6, 8

Advance reading

Obrst L, Ceusters W, Mani I, Ray S, Smith B.

"The Evaluation of Ontologies: toward Improved Semantic Interoperability," in: Baker, Christopher J.O.; Cheung, Kei-Hoi (Eds.) Semantic Web: Revolutionizing Knowledge Discovery in the Life Sciences. Springer, Heidelberg, 2007;:139-58.


FALL RECESS


November 30 Student presentations 1

SLO 6, 7


December 7 Student presentations 2

SLO 1, 4