Technologies and Data Analysis in Genomics

Recommended Prerequisites

The student should have knowledge on Cell and Molecular Biology and Mathematics corresponding to the 1st and 2nd year. The student should be able to read and understand papers or other bibliography in English.

Teaching Methods

Teaching methodologies:
- Theoretical classes: 14 h
- Theoretical/Practical classes: 28 h
- discussion of scientific papers and different topics of genomics with students;
- interaction with different genomic methodologies in the lab;
- resolution of problem-cases with different bioinformatics tools
- Tutorial: 10 h
- guidance in the resolution of case-problems, scientific papers and topics discussion.

Learning Outcomes

Understand the genome and its specifications.
Understand the importance of Genomics, the science that analyses genomes or a large set of genes simultaneously, in different fields, namely in the field of medicine.
Understand the contents of genomic subfields, like structural genomics, functional genomics, and comparative genomics.
Evaluate and identify the different technological tools in the field of genomics, understanding its limitations and possibilities.
Identify, evaluate and understand data bases and bioinformatic tools for the analysis of multiple data, in the field of genomics.
Identify and understand the importance and the application of different technologies and tools for data analysis in emergent fields like pharmacogenomics, nutrigenomics, toxicogenomics, epigenomics, transcriptomics, metagenomics.
Delineate strategies and approaches to data analysis in genomics.
Discuss ethical and regulatory issues related with data analysis and interpretation in the field of genomics.

Work Placement(s)

No

Syllabus

Basic Concepts of Genetics
- DNA, genes, and chromosomes
- Mutations/Variants and chromosomal alterations
- Gene expression and its regulation
- Genetic variability
Structural Genomics
- Technologies and tools
- Genome mapping and genomic annotation
- Structural genomics - databases and bioinformatics tools
Functional Genomics
- Relationship between Genomics and Transcriptomics, Proteomics, Metabolomics, Lipidomics
- Technologies
- Functional genomics - databases and bioinformatics tools
Comparative Genomics and Evolution
- Variation across different genomes; the human genome and genomes of selected animal models
- Metagenomics and its applications
- Comparative genomics - databases and bioinformatics tools
Genomics and Medicine
- Genomics in clinical diagnosis, personal identification, and forensic investigation
- Pharmacogenomics and Toxicogenomics
- Ethical and regulatory issues
- The importance of Bioinformatics in Medicine

Head Lecturer(s)

Maria Joana Lima Barbosa Melo

Assessment Methods

Assessment
Synthesis work: 40.0%
Exam: 60.0%

Bibliography

Livros/Books:

- Genetics And Genomics In Medicine, 2022, ISBN: 9780367490812

- Introduction to Genomics, 4th edition, Arthur Lesk, ISBN 978-0-19-956434-4

- Concepts in Bioinformatics and Genomics, 2^nd edition, 2025, ISBN: 9780198882381

Outros/Others:

- Artigos científicos e de revisão / Scientific and review papers

- Outro material / Other material