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Applications of Genomic Science

Code: 107990
Credits: 3
2026/2027
Degree programme Type Course
Genetics OP 4

Contact lecturer

Name :
Marta Puig Font
Email :
marta.puig@uab.cat

Teaching staff

Laura Jimenez Gracia
Marta Coronado Zamora
Jaime Martinez Urtaza
Cinta Pegueroles Queralt
Sònia Casillas Viladerrams
Antoni Barbadilla Prados
Jose Francisco Sanchez Herrero

Group languages

You can consult this information at the end of the document.

Prerequisites

An intermediate level of English is required and basic genomics knowledge.

Objectives

The general objective of the subject is to provide an advanced vision of the application of genomic sciences in different areas with the description of practical examples. The different subjects that will be taught include recent advances in sequencing, epigenomics, metagenomics, single cell genomics, or advanced transcriptomics technologies. Maximum priority will be given to the application of the subject taught in different scientific areas, so that students can receive advanced training in genomic techniques by describing practical cases for each of the disciplines. Given the current importance of this scientific area, which is very dynamic and constantly changing, students will be favored by receiving an applied and current vision of the different fields of genomics that can complement their basic training.

Learning outcomes

  • CM30 (Integrate knowledge of reproductive genetics and bioethics for the resolution of complex problems in human health.) Integrate knowledge of reproductive genetics and bioethics for the resolution of complex problems in human health.
  • CM31 (Propose solutions to diagnostic and assisted reproduction problems, evaluating their technical feasibility and ethical implications.) Propose solutions to diagnostic and assisted reproduction problems, evaluating their technical feasibility and ethical implications.
  • KM24 (Describe the genetic basis of gametogenesis, embryonic development, and alterations in reproductive function.) Describe the genetic basis of gametogenesis, embryonic development, and alterations in reproductive function.
  • KM26 (Describe the technologies and methods used in genetics and genomics for reproductive diagnosis and assisted reproduction techniques.) Describe the technologies and methods used in genetics and genomics for reproductive diagnosis and assisted reproduction techniques.
  • SM29 (Apply legal regulations and bioethical principles in genomic and reproductive practice.) Apply legal regulations and bioethical principles in genomic and reproductive practice.
  • SM30 (Interpret genetic and reproductive data to explain phenotypes and diseases, integrating ethical implications and the gender perspective.) Interpret genetic and reproductive data to explain phenotypes and diseases, integrating ethical implications and the gender perspective.

Contents

This course provides extensive details of the most recent high-throughput methodologies used in genomics and their applications to solve several different types of problems in the field of genomics:


All classes will be in English.


Topic 1. Applications of RNA sequencing


Topic 2. Applications of DNA sequencing


Topic 3. Single-cell genomics


Topic 4. Structural variation


Topic 5. 3D genomics


Topic 6. Decoding epigenetic marks


Topic 7. Transposable element exaptation


Topic 8. Conservation genetics


Topic 9. Metagenomics


Topic 10. Forensic genetics

Learning activities and methodology

Title Hours ECTS Learning outcomes
Recommended reading and seminar activities 20 0.8
Seminars 6 0.24
Theory classes 16 0.64
Study 28 1.12
Individual tutoring 2 0.08

The contents will be presented in theoretical sessions to provide the basic concepts needed to apply and interpret genomic data.

The course will include different seminar sessions describing ongoing projects based on the use of advanced genomic technologies in different fields. In these seminars, the student will discover practical aspects of the application of these techniques.

Individual or group tutoring sessions can take place for students who wish to do so with the teachers online or in person. These sessions are useful to gauge the student's progress in understanding the subject and to help them with the most difficult concepts.

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
Engagement 10 0 0 CM30, CM31, KM24, KM26, SM29, SM30
Written exam 50 1.5 0.06 CM30, CM31, KM24, KM26, SM29, SM30
Attendance and participation 10 0 0 CM30, CM31, KM24, KM26, SM29, SM30
Seminar evaluation 30 1.5 0.06 CM30, CM31, KM24, KM26, SM29, SM30

The assessment of the subject will be based on a written test (50%) and a presentation about a genomics topic (30%). The rest of the grade will come from attendance and participation in the classes of the subject. To pass the subject it is necessary to obtain a minimum grade of 5 in the exam.

To participate in the retake, students must have previously been evaluated in a set of activities the weight of which is equivalent to a minimum of two thirds of the total grade of the subject. Therefore, students will obtain the grade of \"Not Assessed\" when the evaluation activities carried out have a weight of less than 67% in the final grade.

For this subject, the use of Artificial Intelligence (AI) technologies is allowed exclusively in study support tasks, such as bibliographic or information searches, text correction or translation into another language. The student should clearly identify which parts have been generated with this technology, specify the tools used, and include critical reflection on how these have influenced the process and the final outcome of the activity. The non-transparency of the use of AI in this assessable activity will be considered academic dishonesty and may lead to a partial or total penalty in the grade of the activity, or greater sanctions in cases of severity.

The performance of any irregularity in an evaluation act (academic fraud, plagiarism or improper use of AI, unless such use is expressly authorized in the teaching guide) that may lead to a significant variation in the grade, means that this act will be graded with a 0. If the teaching guide provides that, in order to pass the subject, it is an essential requirement to have obtained a minimum grade in this evaluation act or that there are several irregularities in the evaluation acts of the same subject, the final grade will be 0. Apart from this, a disciplinary process may be initiated against the student who incurs in these irregularities.

Bibliography

Gibson, Greg; Muse, Spencer V, A primer of genome science, Sinauer Associates, 2009 , ISBN:9780878932368.

https://discovery.upc.edu/discovery/fulldisplay?docid=alma991003867819706711&context=L&vid=34CSUC_UPC:VU1

Brown. Terry A, Genomes 5, CRC Press, 2023, ISBN:9780367674076.

https://www.routledge.com/Genomes-5/Brown/p/book/9780367674076?srsltid=AfmBOoqZ--lk414q0yLs32P4VUH1lSt5KNN0VNGA18x1n907RjY0pcHf

Lesk, Arthur, Introduction to Genomics, Oxford University Press, 2025, ISBN:9780198866893.

https://global.oup.com/academic/product/introduction-to-genomics-9780198866893?cc=es&lang=en&

Suravajhala, Prashanth N; Bizzaro, Jeff W, Next-Generation Sequencing, CRC Press, 2025, ISBN:9781003354062.

https://www.taylorfrancis.com/books/edit/10.1201/9781003354062/next-generation-sequencing-prashanth-suravajhala-jeff-bizzaro

Software

No specific software is required.

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
(TE) Theory 64 English second semester morning-mixed
(SEM) Seminars 641 English second semester morning-mixed