84933 - Human Genomics and Biostatistics

Course Unit Page

Academic Year 2021/2022

Learning outcomes

The aim of this course is to provide students with a general understanding of the principles and concepts of human genetics. Specific topics are: fundamentals of gene structure, human genome organization and expression; genetic variation and its functional and pathogenic consequences; molecular basis of single gene disorders and complex diseases; basic principles of DNA technologies and genetic testing. In addition students will get familiar with basic statistical methods for the analysis of biological data

Course contents

Module 1. Human genomics

  • Introduction to human genetics: from Mendelian transmission to genomic medicine
  • Fundamentals of gene structure, genome organization and expression, principles of gene regulation and epigenetics.
  • Genetic variation: origin of DNA variation, types of genetic variants, small scale and structural variation, functional genetic variationand its pathogenic consequences. Single gene disorders: inheritance patterns, phenotype variability
  • Allelic frequences in populations: Hardy Weinberg equilibrium and its applications; how allelic frequencies change.
  • Identification of human disease genes. Mapping and identification of genetic susceptibility to complex disease. The principles of genetic association and linkage disequilibirum mapping; genome-wide association studies.
  • Next generation sequencing and its applications Elements of molecular genetic testing.

Module 2. Biostatistics

  • Descriptive statistics
  • Probability
  • Distributions
  • Populations, samples, standard errors, and confidence intervals
  • Statistical inference: Hypothesis testing and P-value
  • Correlation and linear regression
  • Elements of epidemiology

Readings/Bibliography

The analysis of biological data, by Michael Whitlock and Dolph Schluter

Genetics and Genomics in Medicine, by Tom Strachan, Judith Goodship & Patrick Chinnery (Garland Science).

Teaching methods

Lectures with powerpoint presentations; in class problem solving and exercise

Assessment methods

Written final exam

Teaching tools

Course materals (slide presentations and exercises) will be available on the Moodle web site

https://iol.unibo.it/
Access is restricted to Bologna Unversity students enrolled in the course

Office hours

See the website of Fabiola Ceroni

See the website of Daniele Mercatelli