85307 - Genomics and Complex Traits

Academic Year 2021/2022

  • Teaching Mode: Traditional lectures
  • Campus: Bologna
  • Corso: First cycle degree programme (L) in Genomics (cod. 9211)

Learning outcomes

By the end of the course, the student is able to understand the flow of biological information that underlies complex traits, involving multiple genetic and environmental factors and their interactions. He is familiar with technologies used to generate genomic sequence and genotype data, the approaches to map and identify susceptibility loci, and to link genetic variation to function and phenotypic expression.

Course contents

Frontal lectures (4 CFU):

  • Review of Medelian Genetics and key biological concepts such as inheritance of genetic information.
  • Introduction to complex traits and how to identify a disorder with a genetic component: Concepts of heritability
  • Primer on Population Genetics: Human population diversity, allele frequencies in populations, Hardy-Weinberg equilibrium and ways in which allele frequencies change in populations; Linkage disequilibrium
  • Genotyping methods and errors, identification of copy number variants (CNVs)
  • The spectrum of genetic contributions to disease: common disease-common variant (CD-CV) model versus the rare allele of major effect (RAME) model
  • Approaches to mapping and identifying genetic susceptibility to complex diseases: association analysis and NGS
  • Association studies: Linkage disequilibrium as the basis of allelic associations; design, confounders, familial versus sporadic.
  • Genome-wide association studies of genetic disorders
  • The limitations of GWAS and the issue of missing heritability
  • Risk prediction, meta-analysis, and other post-GWAS analyses
  • Rare Copy number variants associated with complex diseases
  • Whole-genome and whole-exome sequencing to identify rare sequence variants associated with complex diseases
  • Analysis of rare variants: Methods for analysing rare variants from re-sequencing, genotyping and imputation studies via “collapsing approaches”.
  • Scientific papers on complex disorders

Practicals (2 CFU)

The practicals will focus on applying the theoretical part to problem solving. Exercises and short projects will be focused on getting familiarity with the human genome browser and analysis of genomic data. A genome-wide SNP data set will be provided to clean, analyse and interpret.


Selected reviews and scientific articles will be provided.

Highly recommended textbooks:

1) Genetic Association Studies: Background, Conduct, Analysis, Interpretation

Mehmet Tevfik Dorak

Garland Science, Taylor & Francis Group


2) A Primer of Human Genetics

Greg Gibson

Oxford University Press


3) Human Molecular Genetics, 5th Edition

Tom Strachan, Andrew Read

CRC Press, Taylor & Francis Group


Additional textbooks:

Computational Exome and Genome Analysis

Peter N. Robinson, Rosario M. Piro, Marten Jäger

CRC Press, Taylor & Francis Group

Teaching methods

Lectures with powerpoint presentations complemented with practical sessions.

As concerns the teaching methods of this course unit, all students must attend Module 1, 2 [https://www.unibo.it/en/services-and-opportunities/health-and-assistance/health-and-safety/online-course-on-health-and-safety-in-study-and-internship-areas] on Health and Safety online

Assessment methods

Written Exam (max 28 points), Coursework  (max 5 points)

The final assessment verifies the candidate's skill on the topics discussed during the course, including the laboratory activities.

The final assessment includes: 

- a computer-based test at the end of each computer practical session (max 5 points)

- a written test (max 28 points)

Teaching tools

Blackboard/whiteboard; pdf/ppt slide presentations; Movies; Group collaborative learning; Bioinformatic lab

Office hours

See the website of Elena Bacchelli


Good health and well-being

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.