This module aims to provide an insight into the bioinformatics tools available for the acquisition and analysis of DNA, RNA and protein sequences and to evaluate the use of these tools in the biomedical and biotechnology arenas. Students will learn the skills required to access nucleic acid sequences and to design tests for the detection of mutations / alterations in those sequences.
In this module, students will leverage online web browsers, including Galaxy, as powerful tools for the analysis of genetic sequences and variant calling. Through hands-on activities, participants will develop proficiency in utilizing these clinically relevant web-based platforms to explore and interpret genomic data, fostering essential skills in bioinformatics and genomic analysis.
The students will also gain an insight and understanding of the molecular diagnostics technologies currently available and their applications in clinical diagnostics.
Overview of Molecular diagnostics technologies, including next generation sequencing and microarrays.
Examples of the use of molecular diagnostics in real world clinical scenarios
Introduction to online genomic tools, focusing on web based genome browsers
Variant calling techniques using Galaxy platform
Primer design principles and application of online tools for variant-specific primers
PCR experimental design guidelines and troubleshooting
Data analysis and interpretation of variant calling outputs
Downstream analysis applications within the diagnostic laboratory
Introduction to biological data formats and their use in genomic analysis
Exploring commonly used bioinformatic pipeline for quality control, analysis and visualisation of genomic data (E.g. FASTQC,, variant calling, IGV) using the open-source online software, Galaxy
Lectures / tutorials
Computer laboratory workshops
Student-directed reading and on-line education.
Feedback on assignments will be provided via the VLE.
| Module Content & Assessment | |
|---|---|
| Assessment Breakdown | % |
| Other Assessment(s) | 100 |