LQN103 Genetic Technologies
To view more information for this unit, select Unit Outline from the list below. Please note the teaching period for which the Unit Outline is relevant.
| Unit code: | LQN103 |
|---|---|
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
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| Domestic tuition unit fee | $3,468 |
| International unit fee | $4,764 |
Unit Outline: Semester 2 2024, Online
| Unit code: | LQN103 |
|---|---|
| Credit points: | 12 |
| Coordinator: | Heidi Sutherland | heidi.sutherland@qut.edu.au |
Overview
Genomic scientists need to understand key molecular technologies which can be applied for clinical or research purposes. Scientists also need to be knowledgeable about how to interpret these results in order to communicate them to colleagues and referring physicians. Clinicians requesting and/or interpreting genetic test results for their patients need to be familiar with these concepts.
Learning Outcomes
On successful completion of this unit you will be able to:
- Describe the range of cyto- and molecular genetic tools used in diagnostic genomics.
- Analyse clinical problems to determine the most appropriate genomic tools for diagnosis.
- Apply knowledge of genomic diagnostic tools to common clinical and laboratory situations.
- Generate reports outlining the strengths and weaknesses of various genomic technologies as they apply to an authentic problem.
Content
- Karyotyping and its current uses in clinical genetic diagnostics
- Fluorescent in situ hybridisation (FISH)
- Strategies for the design and uses of array analyses
- Different approaches to genotyping analysis
- The uses and design of PCR assays, including primer design (homology and BLAST alignment), types of assays (SyBr vs labelled probes), optimisation and primer efficiency, amplicon preferences, cycle design/type, choice and use of endogenous controls and methods of analysis.
- Digital droplet PCR technology, q-PCR, and PCR genotyping methods
- Generation of cDNA using reverse transcription (process, oligo DT vs random hexamers)
- Strategies for the design of methylation analysis (from single samples through to high throughput methods), in particular assay design, including bisulphite conversion, global vs local, genome-wide vs candidate gene, quantitative vs sensitive and allele-specific
- The design of massively parallel sequencing (MPS) with particular focus on the MPS capture technologies, library preparation, library quality control and data outputs
- Contrast testing using MPS with Sanger sequencing
- Approaches in the analysis of RNA, including preparation, qPCR and arrays
- Emerging diagnostic and molecular therapeutic technologies
- The fundamentals of research methods including formulating questions, study design, experimental design, collecting data and testing hypotheses
Learning Approaches
This unit is designed to introduce you to the core concepts of genetic technologies. The online delivery is through Canvas. The unit is developed around the principles of adult learning, theory and practice and open learning guidelines. This predominantly, asynchronous learning environment allows you to go through lectures, materials and exercises at your own pace.
The Canvas site will provide you with resources including pre-recorded lectures, research papers, media articles and videos. You will also be able to access online meetings, interactive exercises and online message boards. There will be at least one webinar or video-conferencing in which a concept is explained and students will be expected to solve a problem or discuss approaches to a case during the virtual class.
Canvas will facilitate your ongoing conversations with other students and with academic staff. Guidance will be provided, through regular communication via the Canvas site, to help with appropriate self-paced study during the semester. You will be expected to post questions pertaining to the unit on message boards.
You will be encouraged to read widely and to think critically about the nature and scope of how genetic technologies relates to the field of diagnostic genomics.
Feedback on Learning and Assessment
The online webinars and discussion boards are the key places you can ask for and receive feedback on your understanding of unit materials. Feedback on assessment 1 and assessment 2 will be given regarding your analytical skills, ability to identify resources, reasoning, and ability to interpret and summarise your findings. Assessment 3 feedback will be by way of a mark which reflects your theoretical knowledge. Each assessment item will include individual feedback on your progress and feedback will be offered to the group through the Announcements page on the Canvas site.
Assessment
Overview
There are three summative assessment items in LQN103. Assessment 1 is a problem-solving task which gives you the opportunity to synthesise the knowledge gained during this unit and translate it into an experimental design and analysis. Assessment 2 is a research paper that provides you with a genetic disease for which you are required to critically evaluate the literature, describe the clinical, molecular and diagnostic aspects of the disease and discuss their significance in the context of the literature, focusing on appropriate genetic technologies for investigating the condition. Assessment 3 is a theory examination consisting of multiple-choice, short answer and long answer questions covering the semester's content, administered online.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Problem Solving Task
In this assessment piece, you will be given a novel genetic variant, which has been identified in a known disease-associated gene, using whole-exome sequencing. You will need to design PCR primers to confirm the presence of the variant and also explain what additional experiments and/or tools would be helpful to confirm the variant's pathogenicity, or otherwise. You will need to support your arguments with reference to the literature.
This is an assignment for the purposes of an extension.
Assessment: Research Paper
This assessment will present you with a clinical condition. You will be asked to write a research paper to describe the clinical and molecular features of the condition and then research the various genetic technologies available to investigate the disease. Finally, you are to synthesise your research findings to conclude which technology is the most appropriate to use.
This is an assignment for the purposes of an extension.
Assessment: Examination
This online assessment piece will consist of multiple-choice, short answer and long answer questions. It is aimed to ensure that you have a coherent knowledge of the essential elements of genetic technologies which is required on a daily basis in both laboratory and clinical genetic settings. The examination will be open online for a 48 hour period and must be completed within ninety minutes of commencement.
Academic Integrity
Students are expected to engage in learning and assessment at QUT with honesty, transparency and fairness. Maintaining academic integrity means upholding these principles and demonstrating valuable professional capabilities based on ethical foundations.
Failure to maintain academic integrity can take many forms. It includes cheating in examinations, plagiarism, self-plagiarism, collusion, and submitting an assessment item completed by another person (e.g. contract cheating). It can also include providing your assessment to another entity, such as to a person or website.
You are encouraged to make use of QUT’s learning support services, resources and tools to assure the academic integrity of your assessment. This includes the use of text matching software that may be available to assist with self-assessing your academic integrity as part of the assessment submission process.
Further details of QUT’s approach to academic integrity are outlined in the Academic integrity policy and the Student Code of Conduct. Breaching QUT’s Academic integrity policy is regarded as student misconduct and can lead to the imposition of penalties ranging from a grade reduction to exclusion from QUT.
Resources
In addition to online lecture notes, a selection of online textbooks, journal articles, and internet resources will be made available each week through the QUT Library.
Risk Assessment Statement
There are no out of the ordinary risks associated with this unit.