Genetics and computational genomics

Course objectives

General skills The course of Genetics and computational genomics provides students with a basic knowledge of Genetics aimed at understanding the rules of inheritance, their molecular bases, their main applications and their implications for evolution. In addition, the course will allow students to understand how genetic information is encoded at the DNA level and how it contribute to phenotypic variability. Fundamentals concepts in functional genetics and evolution will be reconsidered in light of the sequencing and re-sequencing projects. The student will be also provided of practical and theoretical tools to solve genetic problems and to use databases for storage, management, analysis, and visualization of genetic data. Specific skills A) Knowledge and understanding -Knowledge and understanding of the characteristics of the genetic material -Knowledge and understanding of the rules of genetic transmission -Knowledge and understanding of mutations and their implications -Basic knowledge on the dynamics of genes in populations as well as on the genetic mechanisms underlying evolution - Knowledge and understanding of informatic methods used for genomic analyses B) Applying knowledge and understanding - Usage of a proper genetic terminology - Identification of the right procedures to solve genetic problems - Formulation of hypotheses on the hereditary transmission of characters - Constructing and interpreting genetic maps and genealogical trees - Acquisition of conceptual tools for the genetic dissection of biological systems - Management of genomic browsers and programs for storage, management analysis, and visualization of “big data” C) Making judgements - Acquisition of a critical judgment capacity on solving problems of formal genetics, through the study of the evolution of the gene concept from Mendel to the present day and the detailed analysis of some fundamental experiments - Addressing questions for the elaboration and deepening of the gained information D) Communication skills - Communicating the genetic concepts acquired during the course with appropriate terminology E) Learning skills - Logically connecting the acquired knowledge - Identification of the most relevant topics of the issues discussed during the course

Channel 1
LAURA CIAPPONI Lecturers' profile

Program - Frequency - Exams

Course program
The course provides students with 5+1 CFU, including 40 hours of frontal lectures divided into two Modules (Module I and Module II) of 24 and 24 hours each. Module I This is an introduction to Genetics where the knowledge of the principles of heredity and their practical use in solving biological problems are provided. Topics • Mendel’s principles of heredity and extensions to Mendel’s laws (6 hours) • The chromosome theory of inheritance (2 hours) • Anatomy and function of a gene (2 hours) • DNA mutations, chromosomal rearrangements and changes in chromosome number (2 hours) • Strategies of gene mapping (2 hours) • Bacterial genetic analysis (4 hours) • Genetics of sex determination (2 hours) Module II The second part of the course is an introduction to computational genomics aimed at applying the principles of heredity to populations and solving complex genomic problems with informatic tools. Topics • Structure and variability of the human genome (6 hours) • Mathematical models of genetic evolution (8 hours) • Pedigree, gene mapping and gene association (4 hours) • Comparative genomic and phylogenesis models (2 hours) • Computer analyses (4 hours)
Prerequisites
The course of Genetics and computational genomics is on the first semester of the second year, of the three-year degree in Bioinformatics and is included among the fundamental teachings. Essential prerequisites for understanding the topics illustrated during the course are a robust knowledge of cell biology and basic concepts of mathematics In particular, the following are required: • elements of calculation of probability and algebra • basic knowledge of chemistry • basic knowledge of general biology (eukaryotes and prokaryotes, cell structure, cell cycle)
Books
• “Genetics: From Genes to Genomes” Hartwell • “Human molecular genetics” Strachan Slides of all lectures are available on the e-learning website: https://elearning2.uniroma1.it
Teaching mode
The course is structured in frontal theoretical lectures of 48 hours of total teaching (6 CFU), divided into two Modules (Module I and Module II) of 24 hours each. Lectures are held 2 times per week and presented by the use of slides on Power-Point, with the blackboard support.
Frequency
Lectures are not mandatory.
Exam mode
The exam aims at verifying the level of knowledge and in-depth examination of the topics of the teaching program and the reasoning skills developed by the student. The evaluation is expressed in thirtieths (minimum grade 18/30, maximum mark 30/30 with summa cum laude). The evaluation consists of a written test of 1 hour including exercises and multiple choices questions on the topics covered in Modules I and II. The overall exam allows verifying the achievement of the objectives in terms of knowledge and skills acquired. Ii is also possible to do an integrative oral test after the written test. In the oral test teachers evaluate the property of language, clarity of exposition and critical capacity to solve genetics/genomic problems are also evaluated.
Bibliography
GENETICS: from Formal Analysis to Genomics - Hartwell, Hood, Goldberg, Reynolds, Silver, Veres - MCGRAWHILL GENETICS (exercises): Elrod and Stansfields Shaum's - MCGRAWHILL PRINCIPLES OF GENETICS: Snustad -Simmons - EDISES GENETICS. Principles of formal Analysis - Griffith -Zanichelli
Lesson mode
The course is structured in frontal theoretical lectures of 48 hours of total teaching (6 CFU), divided into two Modules (Module I and Module II) of 24 hours each. Lectures are held 2 times per week and presented by the use of slides on Power-Point, with the blackboard support.
BENIAMINO TROMBETTA Lecturers' profile
  • Lesson code1052115
  • Academic year2024/2025
  • CourseBioinformatics
  • CurriculumSingle curriculum
  • Year2nd year
  • Semester1st semester
  • SSDBIO/18
  • CFU6
  • Subject areaDiscipline biotecnologiche comuni