Stanford University
CS270 / BIOMEDIN210 : Fundamental Methods - Syllabus
Fall 2002

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BMI 210 / CS 270
Introduction to Biomedical Informatics:
Fundamental Methods


Fall Quarter, 2002-2003



1
Thursday, 9/26/02
Introduction to the Course
Professor Mark Musen

Musen MA. “Modeling for Decision Support”, In:
Bemmel van JH, Musen MA (eds.),
Handbook of Medical Informatics, Springer-Verlag,
Heidelberg, Germany, pp. 431-448, 1997.



2
Tuesday, 10/01/02
A Case Study: Internist-1/QMR
Dr. Mor Peleg

Miller RA, Pople HE, Myers JD. Internist-1, an
experimental computer-based diagnostic consultant
for general internal medicine. New England
Journal of Medicine, 307:190-209, 1982.

Pople HE. Heuristic Methods for Imposing
Structure on Ill-Structured Problems: The
Structuring of Medical Diagnostics, In:
Artificial Intelligence in Medicine, ed. Peter
Szolovits, AAAS Select Symposium 51, Westview
Press, Boulder, Colorado, 1982.
<a
href=“http://medg.lcs.mit.edu/ftp/psz/AIM82/ch5.ht
ml”>Article</a>

Barnett GO, Cimino JJ, Hupp JA, Hoffer EP.
DXplain. An evolving diagnostic decision-support
system. JAMA, 3;258(1):67-74, 1987.



3
Thursday, 10/03/02
Controlled Terminologies
Dr. Mor Peleg

Cimino JJ. Desiderata for controlled medical
vocabularies in the twenty-first century. Methods
of Information in Medicine, 37(4-5):394-403,
1998.

Lindberg DA, Humphreys BL, McCray AT. The Unified
Medical Language System. Methods of
Information in Medicine, 32(4):281-291,
1993.


4
Tuesday, 10/08/02
Frame-Based Representations
Professor Mark Musen

Noy NF, Musen MA, Mejino JL, Rosse C. (2002).
Pushing the Envelope: Challenges in a
Frame-Based Representation of Human Anatomy.
Technical Report, Stanford Medical Informatics,
Stanford University, 2002.
<a
href=“http://www.smi.stanford.edu/pubs/SMI_Reports
/SMI-2002-0925.pdf”>Article</a>

R. Davis, H. Shrobe, and P. Szolovits. What is a
knowledge representation? AI Magazine,
14(1):17-33, 1993.
<a
href=“http://medg.lcs.mit.edu/ftp/psz/k-
rep.html”>Article</a>


5
Thursday, 10/10/02
Description Logic
Professor Mark Musen

D. Nardi, R. J. Brachman. An introduction to
description logics. In: The Description Logic
Handbook, edited by F. Baader, D.
Calvanese, D.L. McGuinness, D. Nardi, P.F. Patel-
Schneider, Cambridge University Press, in
press, pp. 5-20.

Haimowitz IJ, Patil RS, and Szolovits P.
Representing medical knowledge in a
terminological language is difficult. In:
Proceedings of the Symposium on Computer
Applications in Medical Care, IEEE Computer
Society Press, pp. 101–105, 1988.
<a
href=“http://medg.lcs.mit.edu/people/psz/Haimowitz
_NIKL.html”>Article</a>

6
Tuesday, 10/15/02
Building Ontologies
Professor Mark Musen

Noy NF and McGuinness DL. Ontology development
101: A guide to creating your first ontology.
Technical Report, Stanford Medical Informatics,
Stanford University, 2001.
<a
href=“http://protege.stanford.edu/publications/ont
ology_development/ontology101.pdf”>Article</a>

Chandrasekaran B, Josephson JR, Benjamins VR.
What are ontologies, and why do we need them?
IEEE Intelligent Systems, 14(1):20–26, 1999.


7
Thursday, 10/17/02
Ontologies in Clinical Informatics
Professor Mark Musen

Rector AL, Glowinski AJ, Nowlan WA, Rossi-Mori A.
Medical-concept models and medical records: An
approach based on GALEN and PEN&PAD. Journal of
the American Medical Informatics Association, 2
(1):19–35, 1995.
<a
href=“http://www.jamia.org/cgi/reprint/2/1/19.pdf”
>Article</a>

G. Schadow, D.C. Russler, C.N. Mead, and C.J.
McDonald, “Integrating Medical Information
And Knowledge in the HL7 RIM,” In:
Proceedings of the AMIA Annual Symposium 2000,
pp. 764-8.




8
Tuesday, 10/22/02
Ontologies in Bioinformatics
Dr. Mor Peleg

Baker PG, Goble CA, Bechhofer S, Paton NW,
Stevens R, Brass A An ontology for
bioinformatics applications. Bioinformatics, 15
(6):510-20, 1999.
<a
href=“http://bioinformatics.oupjournals.org/cgi/re
print/15/6/510.pdf”>Article</a>

Karp PD. An ontology for biological function
based on molecular interactions. Bioinformatics,
16(3):269-85, 2000.
<a
href=“http://bioinformatics.oupjournals.org/cgi/re
print/16/3/269.pdf”>Article</a>

Stevens R, Goble CA, Bechhofer S. Ontology-based
knowledge representation for
bioinformatics. Brief Bioinformatics, 1(4):398-
414. Review, 2000.
<a
href=“http://www.iet.com/Projects/RKF/SME/ontology
-based-knowledge-representation.pdf”>Article</a>

The Gene Ontology Consortium. Gene Ontology: tool
for the unification of biology. Nature
Genetics, 25 (1):25-29, 2000.
<a href=“http://www.nature.com/cgi-
taf/DynaPage.taf?
file=/ng/journal/v25/n1/full/ng0500_25.html”>Artic
le</a>&filetype=pdf



9
Thursday, 10/24/02
Rule-Based Systems I
Professor Mark Musen

Davis R, Buchanan BG, Shortliffe EH. Production
rules as a representation for a knowledge
based consultation program. Artificial
Intelligence, 8:15–45, 1977.

George Hripcsak, Paul D. Clayton, T. Allan Pryor,
Peter Haug, Ove B. Wigertz, Johan van der
Lei. The Arden Syntax for Medical Logic Modules.
In: Proceedings of the Fourteenth Annual
Symposium on Computer Applications in Medical
Care; Washington, D.C. New York: IEEE Computer
Society Press, pp. 200-204, November 4-7, 1990.

10
Tuesday, 10/29/02
Rule-Based Systems II
Professor Mark Musen

Compton P, Edwards G, Kang B, Lazarus L, Malor R,
Menzies T, Preston P, Srinivasan A,
Summut S. Ripple down rules: possibilities and
limitations. In Boose JH, Gaines BR (eds.),
Proceedings of the 6th Banff Knowledge
Acquisition for Knowledge-based SystemsWorkshop,
pp. 6-1–6-18, Banff, Alberta, Canada:
AAAI, October 6-11, 1991.

Clancey WJ. The epistemology of a rule-based
expert system — a framework for
explanation. Artificial Intelligence, 20: 215–
251, 1983.

Clancey WJ. “Mycin’s Map”, In: Situated
Cognition, On Human Knowledge and Computer
Representations. Cambridge University Press, pp.
29-45, 1997.


11
Thursday, 10/31/02
Problem-Solving Methods
Professor Mark Musen

Chandrasekaran B, Johnson TR, Smith JW. Task-
structure analysis for knowledge modelling.
Comminications of the ACM, 35(9), pp. 124-137,
1992.

McDermott J. Preliminary steps toward a taxonomy
of problem-solving methods. In Marcus S, (ed.),
Automating Knowledge Acquisition for Expert
Systems, Kluwer Academic, Boston, pp. 225-256,
1988.


12
Tuesday, 11/05/02
Building Systems with Ontologies and PSMs
Professor Mark Musen

Musen MA. Ontology-oriented design and
programming. In J. Cuena et al., (eds.),
Knowledge Engineering and Agent Technology. IOS
Press, Amsterdam, in press.
<a href=“http://www-
smi.stanford.edu/pubs/SMI_Reports/SMI-2000-
0833.pdf”>Article</a>

Musen MA. Domain ontologies in software
engineering: use of Protégé with the EON
architecture. Methods of Information in Medicine
37:540-550, 1998.
<a href=“http://www-
smi.stanford.edu/pubs/SMI_Reports/SMI-97-
0657.pdf”>Article</a>

13
Thursday, 11/07/02
Cognitive Biases and Decision Making
Professor Mark Musen

Tversky A, Kahneman, D. Judgment under
uncertainty: Heuristics and biases. Sience,
185:1124-1131, 1974.

Johnson PE. What kind of expert should a system
be? The Journal of Medicine and Philosophy
8:77-97, 1983.


14
Tuesday, 11/12/02
Midterm



15
Thursday, 11/14/02
Knowledge Acquisition
Professor Mark Musen

Schreiber AT, Wielinga B, Akkermans JM, van de
Velde W, de Hoog R. CommonKADS: A comprehensive
methodology for KBS development. IEEE Expert; 9
(6): 28-37, 1994.

Berg M. Formal tools and medical practices:
Getting computer-based decision techniques to
work, in Bowker GC, Star SL, Turner W, Gasser L
(eds.), Social Science, Technical Systems, and
Cooperative Work, Beyond the Great Divide,
Lawrence Erlbaum Associates, Hillsdale, N.J.,
Chapter 13, pp. 301-330, 1977.

Gaines BR, and Shaw, MLG. Knowledge acquisition
tools based on personal construct
psychology. Knowledge Engineering Review
8:49–85, 1993.




16
Tuesday, 11/19/02
Ontology Management
Dr. Natasha Noy

Noy NF and Musen MA. PROMPT: Algorithm and tool
for automated ontology merging
and alignment. In: Proceedings of the Seventeenth
National Conference on Artificial Intelligence
(AAAI-2000), pp. 600-605, Austin, TX.
<a href=“http://www-
smi.stanford.edu/pubs/SMI_Reports/SMI-2000-
0831.pdf”>Article</a>

Klein M. Combining and relating ontologies: an
analysis of problems and solutions. In:
Proceedings of the Workshop on Ontologies
and Information Sharing, IJCAI'01, Seattle,
USA, August 4-5, 2001.
<a
href=“http://www.cs.vu.nl/~mcaklein/papers/IJCAI01
-ws.pdf”>Article</a>




17
Thursday, 11/21/02
Methods for Simulation
Dr. Mor Peleg

Reddy VN, Liebman MN, Mavrovouniotis ML.
Qualitative analysis of biochemical reaction
systems. Computational Biology Medicine,
26(1):9-24, January 1996.

Kuffner R, Zimmer R, Lengauer T. Pathway
analysis in metabolic databases via differential
metabolic display (DMD). Bioinformatics,
16(9):825-36, September 2000.
<a
href=“http://bioinformatics.oupjournals.org/cgi/re
print/16/9/825.pdf”>Article</a>

Peleg M, Yeh I, Altman RB. Modelling biological
processes using workflow and Petri net
models. Bioinformatics,18(6):825-37,
2002.
<a
href=“http://bioinformatics.oupjournals.org/cgi/re
print/18/6/825.pdf”>Article</a>





18
Tuesday, 11/26/02
Diagnostic Problem Solving I
Professor Mark Musen

Berner ES, Webster GD, Shugerman AA, Jackson JR,
Algina J, Baker AL, Ball EV, Cobbs CG, Dennis
VW, Frenkel EP, et al. Performance of four
computer-based diagnostic systems. New
England Journal of Medicine, 23;330(25):1792-6,
June 1994.
<a
href=“http://content.nejm.org/cgi/content/full/330
/25/1792

Horrocks JC, McCann AP, Staniland JR, Leaper DJ,
de Dombal FT. Computer-aided diagnosis:
description of an adaptable system, and
operational experience with 2,034 cases.
British Medical Journal, 1;2(5804):5-9, April 1,
1972.

McAdam WAF, Brock BM, Armitage T, Davenport P, de
Dombal FT. Twelve years experience
of computer-aided diagnosis in a District General
Hospital. Annals of the Royal College of Surgeons
of England, 72:140-6, 1990.




19
Thursday, 11/28/02
Thanksgiving



20
Tuesday, 12/03/02
Diagnostic Problem Solving II
Professor Mark Musen

Szolovits P and Pauker SG. Categorical and
probabilistic reasoning in medical diagnosis.
Artificial Intelligence, 11:115-144 (1978).
ftp://medg.lcs.mit.edu/pub/psz/Szolovits-
Pauker78.pdf”>Article</a>

Szolovits P and Pauker SG. Categorical and
Probabilistic Reasoning in Medicine Revisited.
Artificial Intelligence 59:167-180, 1993.
<a
href=“http://medg.lcs.mit.edu/ftp/psz/Szolovits-
Pauker93(Bobrow3).html”>Article</a>

Patil RS, Szolovits P, Schwartz WB. Causal
understanding of patient illness in medical
diagnosis. In: Proceedings of the Seventh
International Joint Conference on Artificial
Intelligence, 2: 893-899. Vancouver, BC: AAAI,
August 24–28, 1981.

Shwe MA, Middleton B, Heckerman DE, Henrion M,
Horvitz EJ, Lehmann HP, Cooper GF. Probabilistic
Diagnosis Using a Reformulation of the INTERNIST-
1/QMR Knowledge Base I. The Probabilistic Model
and Inference Algorithms. Methods of Information
in Medicine, 30(4):241-255, 1991.

Charniak E. Bayesian networks without tears. AI
Magazine, 12(4):50-63, 1991.
<a href=“http://www-
psych.stanford.edu/~jbt/224/Charniak_91.pdf”>Artic
le</a>


21
Thursday, 12/05/02
Therapeutic Problem Solving
Professor Mark Musen

Swartout WR. Explaining and justifying expert
consulting programs. In: Proceedings of the
Seventh International Joint Conference on
Artificial Intelligence, 2:815–823. Vancouver,
BC: AAAI, August 24–28, 1981.

Van der Lei J, Musen MA. A model for critiquing
based on automated medical records. Computers and
Biomedical Research, 24:344–378, 1991.




Coda




Musen MA. Medical informatics: Searching for
underlying components. Methods of Information in
Medicine, 1:12-19, 2002.
<a
href=“http://www.smi.stanford.edu/pubs/SMI_Reports
/SMI-2002-0916.pdf”>Article</a>


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