Genomics
Code: 42925 ECTS Credits: 6| Degree | Type | Year |
|---|---|---|
| Advanced Genetics | OB | 0 |
Contact
- Name:
- Jaime Luis Martinez Urtaza
- Email:
- jaime.martinez.urtaza@uab.cat
Teachers
- Antoni Barbadilla Prados
- Maria del Pilar Garcia Guerreiro
- Jaime Luis Martinez Urtaza
- Barbara Negre De Bofarull
- Marta Puig Font
- Sonia Casillas Viladerrams
- (External) Marina Laplana Lafaja
Teaching groups languages
You can view this information at the end of this document.
Prerequisites
Languages: Lectures will be mainly in English
Postgraduates in Biochemistry, Biotechnology, Biology, Biomedicine, Genetics, Microbiology, Chemistry, Informatics/Bioinformatics, Pharmacy, Medicine and Veterinary Medicine
Objectives and Contextualisation
The overall aim of the subject is to provide students an overview of genomics including fundamentals, current techniques and applications. The specific objectives include understanding the following aspects: the diversity and complexity of eukaryotic genomes, the historical and evolutionary perspective of genomic content, the meaning and consequences of intraspecific variability, techniques commonly employed in studies of genomics, metagenomics and transcriptomics and applications derived from the knowledge provided by this science.
Competences
- Conceive, design, carry out and synthesise scientific projects in the area of genetics, both theoretical and applied.
- Demonstrate a mastery of genetic analysis as a transversal tool applicable to any field of genetics.
- Demonstrate responsibility in management of information and knowledge.
- Demonstrate responsibility in the direction of groups and/or projects in multidisciplinary teams.
- Develop critical reasoning in the area of study and in relation to the scientific and business environments.
- Identify and propose scientific solution for problems related to genetic research at both molecular and organism levels and demonstrate an understanding of the complexity of living beings.
- Identify and use biocomputing tools to contribute to knowledge of the genomics of different organisms.
- Integrate genetic analysis at different levels of complexity (molecular, cell, individual, population) to coherently resolve different problems in the area of genetics.
- Integrate knowledge of the possible alterations in DNA with their consequences for living beings.
- Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
- Students should know how to apply the knowledge they acquire and be capable of solving problems in new or little-known areas within broader contexts (or multidisciplinary contexts) related to their area of study.
- Students should know how to communicate their conclusions, knowledge and final reasoning that they hold in front of specialist and non-specialist audiences clearly and unambiguously.
- Understand the genetic techniques necessary for improving biological processes and their acceptability in economic and health terms.
- Use and manage bibliographical information and other resources related to genetics and related fields.
- Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.
Learning Outcomes
- Analyse the importance of genomics, from a theoretical and applied viewpoint, when planning scientific projects.
- Analyse the role that different changes in DNA have played in gene evolution.
- Analyse the role that different genetic changes have had as mechanisms for genomic change.
- Apply strategies and techniques to isolate genomic regions for specific purposes.
- Appreciate the strategic, industrial and economic importance of genomics in life sciences, health sciences and society.
- Demonstrate responsibility in management of information and knowledge.
- Demonstrate responsibility in the direction of groups and/or projects in multidisciplinary teams.
- Describe and identify the different components present in genomic eukaryotes.
- Describe the complexity of genomes according to the complexity of the organism.
- Describe the organisation, evolution, expression and population variation of the human genome.
- Present summaries and conclusions in public.
- Search for and make explicit the necessary bibliography for understanding the work related to genomics in biocomputing and evolution.
- Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
- Understand the different methodologies, techniques and tools used habitually in sequencing, assembly and annotation of genomes.
- Understand the types and levels of genetic variability in populations as well as their significance and application in medicine and genetic improvement.
- Use knowledge of biocomputing for managing genome databases.
- Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.
- Write critical summaries about the taught seminars.
Content
Introduction to Genomics.
The human Genome.
Genomic Technologies.
Metagenomics
Transposable Elements.
Comparative Genomics: Chromosomal changes.
Comparative Genomics: Nucleotide sequence changes.
Structural variation.
Population Genomics: Theory.
Population Genomics: Data. Studies in Model Species.
Population Genomics in Humans.
Association Studies/System genetics.
Functional Genomics and Transcriptomics.
Epigenomics.
Activities and Methodology
| Title | Hours | ECTS | Learning Outcomes |
|---|---|---|---|
| Type: Directed | |||
| Lectures | 24 | 0.96 | |
| Oral presentations | 8 | 0.32 | |
| Student work, reading and learning | 118 | 4.72 |
Subject teaching includes three types of activities:
- Lectures. Spoken explanations of the subject that is to be learned accompanied by powerpoint presentations to help students visualize cuestions and answers.
- Reading and discussion. Students are expected to read a number of research papers during the course and participate in the critical discussion of the papers in the class room.
- Oral presentations. Students will prepare a subject and make an oral and powerpoint presentation of the subject to their their peers.
Annotation: Within the schedule set by the centre or degree programme, 15 minutes of one class will be reserved for students to evaluate their lecturers and their courses or modules through questionnaires.
Assessment
Continous Assessment Activities
| Title | Weighting | Hours | ECTS | Learning Outcomes |
|---|---|---|---|---|
| Exam | 40% | 0 | 0 | 3, 2, 4, 15, 14, 8, 9, 10, 5 |
| Lecture attendance and participation | 20% | 0 | 0 | 2, 1, 12, 15, 14, 8, 9, 10, 18, 11, 13 |
| Oral presentations | 40% | 0 | 0 | 12, 7, 6, 18, 11, 13, 16, 17 |
Final grades are a weighed average of following items:
- Attendance and participation in the classroom (20%)
- Oral presentation and defense (40%)
- Exam (40%)
For this subject, the use of Artificial Intelligence (AI) technologies is allowed exclusively in support tasks, such as bibliographic or information search, text correction or translations. The student will have to clearly identify which parts have been generated with this technology, specify the tools used and include a critical reflection on how they have influenced the process and the final result of the activity. Non-transparency of the use of AI in this assessable activity will be considered a lack of academic honesty and may result in a partial or total penalty in the grade of the activity, or greater penalties in cases of seriousness
Not assessable
Students will be graded as "Not assessed" when the weight of the evaluation in which they have participated is less than the equivalent of 50% of the final grade of the module.
Bibliography
Basic books
- Gibson, G. & S. V. Muse, 2009 (3rd edition). A Primer of Genome Science. Sinauer, Massachusetts. USA.
- Brown, T. A. 2023. Genomes 5 (5th edition). Garland Science, New York, USA.
- Lesk, A.M. 2017. Introduction to genomics (3rd edition). Oxford University Press, Oxford, UK.
- Lynch, M. 2007. The origins of genome architecture. Sinauer.
- Strachan, T. & A. Lucassen, 2023. Genetics and Genomics in Medicine (2nd edition). CRC Press
http://bioinformatica.uab.es/mastergp
UAB Virtual Campus: https://cv2008.uab.cat/
Entrez Genome Database: http://www.ncbi.nlm.nih.gov/genome
Software
NA
Groups and Languages
Please note that this information is provisional until 30 November 2025. You can check it through this link. To consult the language you will need to enter the CODE of the subject.
| Name | Group | Language | Semester | Turn |
|---|---|---|---|---|
| (TEm) Theory (master) | 1 | English | first semester | morning-mixed |