Advanced Biomedical Ontology: Difference between revisions

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'''Advanced Topics in Biomedical Ontology'''
==Background Information==


'''Department of Biomedical Informatics and Department of Philosophy'''
'''Department of Biomedical Informatics and Department of Philosophy'''
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:Type of Instruction: Seminar
:Type of Instruction: Seminar


:Class Numbers: BMI 708 SEM, PHI 637 SEM
:BMI 708 SEM, PHI 637 SEM


:Semester: Fall 2017
:Semester: Fall 2017
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==August 31: Systems and techniques for representing biomedical data, information and knowledge using ontologies (WC)==
==August 31: Systems and techniques for representing biomedical data, information and knowledge using 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  
[https://buffalo.box.com/s/tb03t4x1e3snhcmmnnewbb1pakvwptnc Slides]
[https://buffalo.box.com/s/7me3csuyy0d1bh6g5ivnu8v6zfpy26ts Video]


Advance reading
Advance reading
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==September 5 (Optional): How to use ontology to analyze a domain. St (WC)
==September 5 (Optional extra session): Core Competency Lectures (WC)==
Werner Ceusters, MD, Professor, Division Chief
:Venue: [http://www.buffaloctrc.org/contact/ CTRC 5019A&B]
Alex Diehl, PhD, Assistant Professor
:5:00-6:30pm: How to use ontology to analyze a domain.  
Structure of Research Data Files
:6:30-8:00pm: Structure of Research Data Files (How to do it Right and Wrong)
(How to do it Right and Wrong)
Werner Ceusters, MD, Professor, Division Chief


==September 7: Best practice principles for building domain ontologies, terms, and definitions (BS)==
----
 
==September 7: Best practice principles for building ontologies. Introduction to Basic Formal Ontology (BFO) (BS)==
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 1
[https://buffalo.box.com/s/nhl627625mv23sih6642mifztkx26166 Slides]
[https://buffalo.box.com/s/nib5z762bca93crzxm72rlq2syu4ee21 Video]
:Principles for building ontologies
:Principles for defining ontology terms
:Introduction to BFO (Part 1)
:Discussion of a proposal to define 'capability' within the BFO framework
::[https://www.youtube.com/watch?v=gJxfZ3cq5jE Video on functions, dispositions and capabilities]


:Today is the deadline for selection of the '''topic''' of your term paper.
:Today is the deadline for selection of the '''topic''' of your term paper.


Advance reading
Advance reading
:[https://www.researchgate.net/profile/Barry_Smith4/publication/51188119_Ontological_realism_A_methodology_for_coordinated_evolution_of_scientific_ontologies/links/02e7e52e910d23b28b000000/Ontological-realism-A-methodology-for-coordinated-evolution-of-scientific-ontologies.pdf Barry Smith and Werner Ceusters, “Ontological Realism as a Methodology for Coordinated Evolution of Scientific Ontologies”, ''Applied Ontology'', 5 (2010), 139–188.]
:Arp R, Smith B, Spear AD. ''Building Ontologies with Basic Formal Ontology''. MIT Press, 2015, chapters 3-4.
:Arp R, Smith B, Spear AD. ''Building Ontologies with Basic Formal Ontology''. MIT Press, 2015, chapters 3-4.
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----


==September 14: Basic Formal Ontology (BFO) and the Ontology for General Medical Science (OGMS) (BS) ==
==September 14: [http://www.obofoundry.org/ontology/iao.html Information Artifact Ontology] (IAO) and [http://www.obofoundry.org/ontology/ogms.html Ontology for General Medical Science] (OGMS) (BS) ==
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 2
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 2
[https://buffalo.box.com/s/z72w55bzgs5tlyxw7je1unvrqyof9hu2 Slides]
[https://buffalo.box.com/s/5dugfsnskqpdp383e1ksdchslxyrz30f Video]
:Introduction to BFO (Part 2)
:Introduction to IAO
:Introduction to OGMS


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.
:[http://ceur-ws.org/Vol-1515/regular10.pdf Aboutness: W. Ceusters, B. Smith, "Towards Foundations for the Information Artifact Ontology"]


: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.
: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 the Protégé ontology editor and add-on tools ([http://www.jneilotte.com/ Neil Otte])==
==September 21: Protégé Quickstart for Users of BFO ([http://www.jneilotte.com/ Neil Otte])==
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 7
[https://buffalo.box.com/s/irx9zdg1fq0w5iw7u5lxjzjgyukwv902 Slides]
[https://buffalo.box.com/s/d4tl6v1w2hpdpg6yhyr5ia510mru7qqx Video]
[https://buffalo.box.com/s/hoo3bk43eanf1rzk5kf1s5b4eckrqakg Class Exercise]
[https://buffalo.box.com/s/vjdx999434t3ncga1lagzxi2ueicganx Class Exercise (OWL)]


Advance preparation
Advance preparation
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==September 28: BFO, OGMS and the OBO Foundry (BS)==
==September 28: The OBO Foundry (BS)==
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3


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Advance reading
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
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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==October 17 (Optional extra session): Core Competency Lectures==
==October 17 (Optional extra session): Core Competency Lecture==
:Venue: [http://www.buffaloctrc.org/contact/ CTRC 5019A&B]
:Venue: [http://www.buffaloctrc.org/contact/ CTRC 5019A&B]
:5:00-6:30pm: Data Ethics and Responsible Data Sharing (BS)
:5:00-6:30pm: Data Ethics and Responsible Data Sharing (BS)
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[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7
[http://ncor.buffalo.edu/2017/SLO.htm SLO] 3, 7


Advance reading
'''Advance reading: OMOP'''
:[http://omop.org/CDM Observational Medical Outcomes Partnership Common Data Model]
 
:[https://buffalo.box.com/s/hypd36e8msxr0u2bi8g5gndos8afbl9t J. Blaisure and W. Ceusters, Improving Common Data Models ‘Fitness for Purpose’ by the Application of Realism Based Ontology]
 
:[http://omop.org/CDM Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM)]
 
'''Advance Reading: RDoC'''
 
:[https://buffalo.box.com/s/o33sbscswbc0u64yj47y74a4za04lfsc, W. Ceusters, M. Jensen and A. D. Diehlm Ontological Realism for the Research Domain Criteria for Mental Disorders]
 
:[https://buffalo.box.com/s/w09djhf96skctptxv1gdtvb9h38jy7i9 M. Jensen and A. D. Diehl, Integrating an ontology for RDOC with existing biomedical ontologies]
 
:[https://gopher.nimh.nih.gov/research-priorities/rdoc/index.shtml Research Domain Criteria (RDoC)]


Today is the deadline for submission of draft of term paper.
Today is the deadline for submission of the draft of your term paper.
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Revision as of 00:27, 26 September 2017

Background Information

Department of Biomedical Informatics and Department of Philosophy

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

• Thursday: 4pm to 6:50pm

• Number of Credits: 3

• Course prerequisites: BMI508 / PHI548 Biomedical Ontology or PHI549 Applied Ontology (can be waived if the student has enrolled in a suitable mentored research tutorial (BMI510 / PHI599) with Ceusters or Smith).

• 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.

Term paper deadlines

The course concludes with a series of presentations by class participants of their term papers, which should be on a topic in biomedical ontology related to the subject-matter of their PhD research. Relevant deadlines are as follows:

September 7: Selection of term paper topic
October 12: Submission of 300-400 word abstract.
November 9: Submission of draft of term paper.
November 16: Submission of draft of powerpoint presentation.

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

SLO (Student Learning Outcomes) 4, 5

Slides

Video

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 5 (Optional extra session): Core Competency Lectures (WC)

Venue: CTRC 5019A&B
5:00-6:30pm: How to use ontology to analyze a domain.
6:30-8:00pm: Structure of Research Data Files (How to do it Right and Wrong)

September 7: Best practice principles for building ontologies. Introduction to Basic Formal Ontology (BFO) (BS)

SLO 1

Slides

Video

Principles for building ontologies
Principles for defining ontology terms
Introduction to BFO (Part 1)
Discussion of a proposal to define 'capability' within the BFO framework
Video on functions, dispositions and capabilities
Today is the deadline for selection of the topic of your term paper.

Advance reading

Barry Smith and Werner Ceusters, “Ontological Realism as a Methodology for Coordinated Evolution of Scientific Ontologies”, Applied Ontology, 5 (2010), 139–188.
Arp R, Smith B, Spear AD. Building Ontologies with Basic Formal Ontology. MIT Press, 2015, chapters 3-4.

September 14: Information Artifact Ontology (IAO) and Ontology for General Medical Science (OGMS) (BS)

SLO 2

Slides

Video

Introduction to BFO (Part 2)
Introduction to IAO
Introduction to OGMS

Advance reading

Arp R, Smith B, Spear AD. Building Ontologies with Basic Formal Ontology. MIT Press, 2015, chapters 5-6.
Aboutness: W. Ceusters, B. Smith, "Towards Foundations for the Information Artifact Ontology"
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: Protégé Quickstart for Users of BFO (Neil Otte)

SLO 7

Slides

Video

Class Exercise

Class Exercise (OWL)

Advance preparation

Before class, please download the Protégé Ontology Editor and install it locally on your laptop. Bring your laptop to class with you.

Advance reading

Protégé User Guide

After-class exercise

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

September 28: 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: CTRC 5019A&B
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 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 a corresponding ontology.
3. to make the results available electronically by the end of class.

Today is the deadline for submission of 300-400 word abstracts of your term paper. 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 Lecture

Venue: CTRC 5019A&B
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 readings

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

After-class exercise

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, and taking into account the representation here.

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: OMOP

J. Blaisure and W. Ceusters, Improving Common Data Models ‘Fitness for Purpose’ by the Application of Realism Based Ontology
Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM)

Advance Reading: RDoC

W. Ceusters, M. Jensen and A. D. Diehlm Ontological Realism for the Research Domain Criteria for Mental Disorders
M. Jensen and A. D. Diehl, Integrating an ontology for RDOC with existing biomedical ontologies
Research Domain Criteria (RDoC)

Today is the deadline for submission of the draft of your term paper.


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