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


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

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