84933 - Human Genomics and Biostatistics

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
• Genetic variation: origin of DNA variation, types of genetic variants, small scale and structural variation, functional genetic variation and its pathogenic consequences.
• Single gene disorders: inheritance patterns, phenotype variability
• Allelic frequencies 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 disequilibrium mapping; genome-wide association studies.
• Next generation sequencing and its applications.

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

The course consists of 9 CFUs organized as follows:

Module 1: 5 CFU of lectures and 1 CFU of practical laboratory exercises

Module 2: 1 CFU of face-to-face lectures and 2 CFU of computer classroom exercises

For learning purposes, attendance of lectures and of lab and computer practicals is recommended

The course provides Integrative Digital Didactic (DDI) instruments to support students in their learning activities and exam preparation. On the Virtuale Platform, students will have access to:
- lecture slides, articles and links to web pages, made available prior to the lecture and subdivided for each topic in the syllabus
- links to videos and animations, as extra support to better understand the concepts illustrated in the lecture.
- A series of problems with solutions, divided by topic
- self-assessment quizzes, made available at the end of each course topic
- To stimulate students' interest and involvement, interactive activities are provided during the lessons (Wooclap platform)

LABORATORY practicals

All students (including all the international incoming exchange students, i.e. ERASMUS) must attend Module 1, 2 online [https://www.unibo.it/it/servizi-e-opportunita/salute-e-assistenza/salute-e-sicurezza/sicurezza-e-salute-nei-luoghi-di-studio-e-tirocinio ], while Module 3 on health and safety is to be attended in class. Information about Module 3 attendance schedule is available on the website of your degree programme ("studiare"--"formazione obbligatoria su sicurezza e salute").

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 Elena Maestrini

See the website of Marta Viggiano