Important notice
The course guide is provisional.
The PDF version of the course guide may take a few days to become available in the DDD.
Medical Genomics and Bioinformatics
Code: 44344Credits: 6
| Degree programme | Type | Course |
|---|---|---|
| Advanced Genetics | OP | 0 |
Contact lecturer
- Name :
- Jordi Surralles Calonge
- Email :
- jordi.surralles@uab.cat
Teaching staff
- Massimo Bogliolo
- Lidia Gonzalez Quereda
- Benjamin Rodriguez Santiago
- Susana Boronat Guerrero
- Ivon Cusco Marti
Teaching staff (external to UAB)
- Clara Serra
Group languages
You can consult this information at the end of the document.
Prerequisites
A degree in the field of biosciences
Objectives
Introduction to the applications of genomic medicine to the diagnosis, understanding and treatment of genetic diseases.
Introduction to the bioinformatic analysis of genetic variants, data bases, filtering of variants
Genetic councelling
Genetically based advanced therapies for the treatment of genetic disorders
Medical genetics and dysmorphology
Learning outcomes
- Preparation and presentation of seminars.
- Write critical summaries about the taught seminars.
- Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
- Apply bibliographical information about rules and legislation in risk assessment.
- Demonstrate responsibility in the management of information and knowledge and in the direction of groups and/or projects in multidisciplinary teams.
- Write a report that considers the use of the methodology used in the module to resolve a specific problem.
- Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.
- Display knowledge of genetic analysis applied to the genomics of clinical cases.
- Identify and compare the different methodologies of molecular analysis of genetic variability and medical genomics.
- Identify suitable bioinformatic methodologies for genomic analysis applied to personalised medicine.
- Solve practical problems in medical genomics by applying knowledge of bioinformatic analysis of the genoma.
Contents
Introduction to the applications of genomic medicine to the diagnosis, understanding and treatment of genetic diseases. Introduction to the bioinformatic analysis of genetic variants, data bases, filtering of variants . Introcution to genetic councelling. Genetically based advanced therapies for the treatment of genetic diseases. Medical genetics and dysmorphology
Learning activities and methodology
| Title | Hours | ECTS | Learning outcomes |
|---|---|---|---|
| Bioinformatic analysis | 50 | 2 | 10, 11 |
| Written report | 40 | 1.6 | 2, 8, 9, 11 |
| Theoretica teaching | 25 | 1 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
| Bioinformatics in informatics classroom | 25 | 1 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
theoretical classesTeaching based on problem solvingClasses in the bioinformatics classroomAssessment
Continuous assessment activities
| Title | Weight | Hours | ECTS | Learning outcomes |
|---|---|---|---|---|
| Exam of the Bioinformatics Part | 40% | 3 | 0.12 | 8, 9, 10, 11 |
| Written report | 20% | 3 | 0.12 | 2, 6, 7, 8, 10 |
| exam theory | 40% | 4 | 0.16 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
Exam of the theorethical teaching, problem solving at the bioinformatica classroom and written report
For the written work part of this subject, the use of Artificial Intelligence (AI) technologies is permitted exclusively in support tasks, such as bibliographic or information searches, text correction or translations. The student must clearly identify which parts have been generated with this technology, specify the tools used and include a critical reflection on how these have influenced the process and the final result of the activity. The lack of transparency in the use of AI in this assessable activity will be considered a lack of academic honesty and may lead to a partial or total penalty in the grade of the activity, or greater sanctions in serious cases.
The commission of any irregularity in an assessment act (academic fraud, plagiarism or improper use of AI, unless this use is expressly authorized in the teaching guide), which may lead to a significant variation in the grade, means that this act will be graded with a 0. In the event that the teaching guide provides that to pass the subject it is an essential requirement to have obtained a minimum grade in this assessment act or that several irregularities occur in the assessment acts of the same subject, the final grade for this subject is 0. Apart from this, a disciplinary process may be initiated against the student who incurs any of these irregularities.
Bibliography
to be showns during the teaching sessions
Software
Will be given in the PC classroom
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 | morning-mixed |
| (PLABm) Practical laboratories (master) | 1 | English | first semester | afternoon |