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Handbooks Courses Units

EPM5012 - Bioinformatics and statistical genetics

6 points, SCA Band 2, 0.125 EFTSL

Postgraduate Faculty of Medicine, Nursing and Health Sciences

Leader: Dr G Byrnes


Alfred Hospital Second semester 2008 (Off-campus)


The unit begins with a brief review of elementary molecular biology: DNA, RNA, the central dogma, meiosis, mitosis and genes. Some fundamental mathematical tools for statistical analysis are also reviewed. The unit then covers sequence alignment, database searching, Mendelian genetics and techniques for discovering connections between genes and disease: association, linkage and variance components studies.


On completion of this unit students should be able to:

  1. Understand basic molecular biology and use this to assess claims of genetic causation of disease;
  2. Interpret the results of database searching to identify gene function, taking account of the statistics of alignment scores;
  3. Apply standard concepts of mathematical statistics, in particular likelihood theory, to the analysis of molecular and population genetics;
  4. Investigate the degree of genetic contribution to disease via twin-study data;
  5. Analyse data for the presence of association or linkage of specific genes with given diseases.


Written assignments 100%


MPH1040; EPM5002; EPM5003; EPM 5004

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