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Statistical methods in genetic epidemiology and gene mapping, fall 2007


prof. Elja Arjas


6/8 cu.


Advanced studies.


The course requires reasonable fluency in probability calculus, as well as understanding of the basic ideas underlying statistical inference and testing. It is also helpful, but not an absolute requirement, to have some previous familiarity with the main principles of genetic inheritance, particularly with Mendelian segregation.


Period I, Monday 10-12 in room B120, Thursday 12-14 in room C123 (both in Exactum).

The lectures start on Monday, Sept. 10.


The course will cover the main points from the monograph

Duncan C. Thomas: Statistical Methods in Genetic Epidemiology, Oxford University Press, 2004

Table of Contents:
1. Overview of Genetic Epidemiology
2. Basic Concepts of Molecular Genetics
3. Principles of Mendelian Inheritance
4. Basic Epidemiological and Statistical Principles
5. Familial Aggregation
6. Segregation Analysis
7. Linkage Analysis
8. Principles of Population Genetics
9. Testing Candidate Gene Associations
10. Linkage Disequilibrium Mapping
11. Gene Characterization
12. Tying it all together: The Genetic Epidemiology of Colorectal Cancer

Requirements for course completion

Final exam, worth 6 ECTS credits, on November 14, from 16-20 o'clock in auditorium A111, Exactum.

The following subjects are required at the exam:

  • Central points of chapters 3 (Principles of Mendelian inheritance) and 4 (Basic epidemiologic and statistical principles)
  • Chapter 5 (Familial aggregation), pages 95-99, 104-110
  • Chapter 6 (Segregation analysis), pages 137-148, 153-157
  • Chapter 7 (Linkage analysis), pages 167-187, 191-196, 200-211
  • Chapter 8 (Principles of population genetics), sivut 227-244, 247-252
  • Chapter 9 (Testing candidate gene associations), sivut 253-264
  • Chapter 10 (Linkage equilibrium mapping), sivut 283-286.

By completing an individual study project one can earn 2 additional ECTS credits.

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