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Genomics

Code: 42925
Credits: 6
2026/2027
Degree programme Type Course
Advanced Genetics OB 0

Contact lecturer

Name :
Jaime Martinez Urtaza
Email :
jaime.martinez.urtaza@uab.cat

Teaching staff

Antoni Barbadilla Prados
María Pilar Garcia Guerreiro
Jaime Martinez Urtaza
Barbara Negre De Bofarull
Marta Puig Font
Sònia Casillas Viladerrams

Teaching staff (external to UAB)

Marina Laplana Lafaja

Group languages

You can consult this information at the end of the 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

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.

Learning outcomes

  1. Write critical summaries about the taught seminars.
  2. Present summaries and conclusions in public.
  3. Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
  4. Apply strategies and techniques to isolate genomic regions for specific purposes.
  5. Describe and identify the different components present in genomic eukaryotes.
  6. Describe the complexity of genomes according to the complexity of the organism.
  7. Understand the different methodologies, techniques and tools used habitually in sequencing, assembly and annotation of genomes.
  8. Describe the organisation, evolution, expression and population variation of the human genome.
  9. Analyse the role that different changes in DNA have played in gene evolution.
  10. Analyse the role that different genetic changes have had as mechanisms for genomic change.
  11. Appreciate the strategic, industrial and economic importance of genomics in life sciences, health sciences and society.
  12. Understand the types and levels of genetic variability in populations as well as their significance and application in medicine and genetic improvement.
  13. Analyse the importance of genomics, from a theoretical and applied viewpoint, when planning scientific projects.
  14. Search for and make explicit the necessary bibliography for understanding the work related to genomics in biocomputing and evolution.
  15. Demonstrate responsibility in management of information and knowledge.
  16. Demonstrate responsibility in the direction of groups and/or projects in multidisciplinary teams.
  17. Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.
  18. Use knowledge of biocomputing for managing genome databases.

Contents

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.


 

Learning activities and methodology

Title Hours ECTS Learning outcomes
Oral presentations 8 0.32
Student work, reading and learning 118 4.72
Lectures 24 0.96

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

Continuous assessment activities

Title Weight Hours ECTS Learning outcomes
Exam 40% 0 0 4, 5, 6, 7, 8, 9, 10, 11, 12
Lecture attendance and participation 20% 0 0 1, 2, 3, 5, 6, 7, 8, 9, 12, 13, 14
Oral presentations 40% 0 0 1, 2, 3, 14, 15, 16, 17, 18

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.

Any irregularity committed during an assessment activity (academic fraud, plagiarism, or the improper use of AI—unless such use is expressly authorized in the course syllabus) that could lead to a significant change in the grade will result in that activity being graded as a 0. If the course syllabus stipulates that passing the subject requires a minimum grade in that specific assessment activity, or if multiple irregularities occur across assessment activities for the same subject, the final grade for the subject will be 0. Furthermore, disciplinary proceedings may be initiated against any student who commits such irregularities.

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

Useful links

Entrez Genome Database: http://www.ncbi.nlm.nih.gov/genome

Software

NA

Course groups and languages

The information provided is provisional until November 30. After this date, you will be able to consult the language of each group through this link. To access the information, you will need to enter the course CODE

Type of teaching Group Language Semester Shift
(TEm) Theory (master) 1 English first semester afternoon