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

Required preliminary knowledge: basic concepts of general genetics and molecular biology

LECTURES (5 CFU)

• Introduction to the study of human genetics and genomics: from Mendelian principles to genomic medicine

• The study of the human genome: fundamental techniques of molecular investigation, the Human Genome Project, genome mapping and sequencing, genome structure and expression; Next Generation Sequencing (NGS) and its applications

• Use of the Genome Browser as a tool for visualizing and interpreting genomic data

• Genetic variability: origin of genetic variability, different types of DNA variants, point variants and structural variants, chromosomal rearrangements, functional and pathological consequences of genetic variants

• Genetic analysis of human traits and pedigree analysis: main models of Mendelian trait transmission, factors that complicate the mode of transmission of Mendelian traits.

• Allele frequencies in the population: Hardy-Weinberg law and its applications, deviations from HW equilibrium.

• Complex diseases: the polygenic and multifactorial nature of complex diseases; concept of heritability, twin studies for estimating heritability; strategies for mapping and identifying genetic factors involved in complex diseases; genome-wide association studies (GWAS) and linkage disequilibrium mapping

• Elements of molecular diagnostics and genetic testing

LABORATORY (1 CFU)

RFLP typing by PCR-RE: Extraction of genomic DNA from mouth-swabs. Agarose gel electrophoresis. PCR reaction to amplify two different single nucleotide polymorphisms. Digestion of PCR products with restriction enzymes. Genotyping of the two SNPs. Data analysis and verification of Hardy Weinberg equilibrium conditions.

MODULE 2 Biostatistics (3 CFU)

This module provides an introduction to statistical techniques applied to biology, with particular attention to the use of statistical tools in the analysis of genetic data. Theoretical lessons will be accompanied by practical exercises using simple software (Excel) and bioinformatics resources.

Introduction to the study of biostatistics (2 hours)

• Overview of the teaching module program
• Applications of biostatistics in biology/healthcare

Descriptive statistics (2 hours)

• Data visualization: tables and graphs; Data description: measures of central tendency and measures of dispersion

  Inferential statistics (6 hours)

• Estimation with uncertainty: sampling distribution of an estimate, standard error, confidence intervals;
• Hypothesis testing: steps for testing a hypothesis, null hypothesis and alternative hypothesis, test statistic, null distribution, calculation of the p-value and statistical significance, types of error
• The binomial distribution, the normal distribution and the central limit theorem, Student's t-distribution
• Analysis of proportions, comparison between two means, comparison between the means of several groups: analysis of variance (ANOVA)

Introduction to probability (2 hours)

• Probability: the sum rule, the product rule, conditional probability, and Bayes' theorem, screening tests, sensitivity, specificity, and predictive value of a test

  Association between variables and independence tests (2 hours)

• Contingency tables, chi-square test, relative risk, odds ratio

  Relationship between numerical variables (2 hours)

• Correlation and linear regression

  COMPUTER LAB (15 hours)

• Data visualization and description with Excel
• Hypothesis testing (comparison of 2 means, comparison of means of multiple samples, analysis of proportions)
• Correlation and linear regression
• Use of the UCSC genome browser

Readings/Bibliography

• Genetics and Genomics in Medicine, by Tom Strachan, Judith Goodship & Patrick Chinnery (Garland Science).
• Human Molecular Genetics. Tom Strachan, Andrew Read. Fifth Edition (CRC Press, Garland Science) 2019.
  

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

Teaching methods

The course consists of 9 CFUs organized as follows:

Module 1: 5 CFU of class lectures + 1 CFU laboratory practicals

Module 2: 1 CFU of class 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 materials (ppt presentations, exercises and solutions, suggested reading, videos, supplementary teaching materials) will be available on the Virtuale website (virtuale.unibo.it).

Access is reserved for students enrolled in the course.

 

NB Students with Specific Learning Difficulties or temporary or permanent disabilities: 

please contact the relevant university office (https://site.unibo.it/studenti-con-disabilita-e-dsa/it) in advance, which will propose possible adjustments to the students concerned. The request for any adjustment must be submitted in advance (15 days before the exam date) to the lecturer, who will assess the appropriateness of the adjustments, taking into account the teaching objectives.

Office hours

See the website of Elena Maestrini

See the website of Elena Bacchelli

See the website of Marta Viggiano