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 | $3,744 |
| International unit fee | $5,148 |
Unit Outline: Semester 2 2025, Online
| Unit code: | LQN103 |
|---|---|
| Credit points: | 12 |
| Coordinator: | Heidi Sutherland | heidi.sutherland@qut.edu.au |
Overview
This foundational genomics unit examines the key molecular technologies that can be applied to clinical diagnosis and human genetics research. Examples of different types of molecular lesions encountered in human genomics are used to demonstrate the selection of the most appropriate diagnostic platform. You will learn about how to interpret results in order to communicate them to colleagues and referring physicians. Clinicians who interpret genetic test results for their patients will become familiar with these concepts to improve clinical care.
Students are required to verify their identification in this unit by displaying their student identification card at the beginning of their assessment 2 oral presentation.
Learning Outcomes
On successful completion of this unit you will be able to:
- Compare and contrast the range of advanced cyto- and molecular genetic technologies used in diagnostic genomics.
- Investigate and analyse clinical problems to determine the most appropriate genomic technologies for diagnosis and to effectively communicate these findings.
- Critically appraise available genomic diagnostic technologies as applied 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
- The fundamentals of research methods including formulating questions, study design, experimental design, collecting data and testing hypotheses
- Karyotyping and its current uses in clinical genetic diagnostics
- Fluorescent in situ hybridisation (FISH)
- Uses of arrays in genomic analysis
- 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 next generation sequencing (NGS), library preparation, library quality control and data outputs
- Contrast testing using different sequencing methods
- Approaches in the analysis of RNA, including preparation, qPCR and arrays
- Emerging diagnostic and molecular therapeutic technologies
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. Guidance will be provided, through regular communication via the Canvas site, to support meaningful appropriate self-paced study during the semester.
In this introductory unit, you are expected to:
- Access online meetings, undertake interactive exercises, and use online message boards to interact with peers and teaching staff.
- Take advantage of ongoing online conversations with other students and with academic staff, which facilitate focused learning and interaction. You will be expected to demonstrate active engagement by posting questions and/or responding to queries on the discussion boards.
- Engage with the webinar / video-conference which explores concepts.
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. 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 two 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. For Assessment 2, you will be assigned a genetic disease to analyse. Your task is to critically evaluate the relevant literature, describe the disease’s clinical presentation, molecular characteristics, and diagnostic features, and discuss its significance within the existing research. You should emphasise the role of appropriate genetic technologies in investigating the condition.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Problem Solving Task
In this assessment piece, you will take on the role of a laboratory scientist and 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 for your laboratory 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 assignment is eligible for the 48-hour late submission period and assignment extensions.
Assessment: Research Report Communication
In this assessment, you will be presented with a clinical condition and will take on the role of a member of a multidisciplinary team that discusses clinical cases and testing options. You will be required to submit both a written research report and a pre-recorded oral presentation. In these, you will describe the clinical and molecular characteristics of the assigned condition, evaluate the available genetic technologies for its investigation, and synthesize your findings to determine and justify the most appropriate technology for studying the disease.
Additionally, as part of the verified identity assessment, you must display your student identification card at the beginning of your oral presentation.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
Academic Integrity
Academic integrity is a commitment to undertaking academic work and assessment in a manner that is ethical, fair, honest, respectful and accountable.
The Academic Integrity Policy sets out the range of conduct that can be a failure to maintain the standards of academic integrity. This includes, cheating in exams, plagiarism, self-plagiarism, collusion and contract cheating. It also includes providing fraudulent or altered documentation in support of an academic concession application, for example an assignment extension or a deferred exam.
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.
Breaching QUT’s Academic Integrity Policy or engaging in conduct that may defeat or compromise the purpose of assessment can lead to a finding of student misconduct (Code of Conduct – Student) and result in the imposition of penalties under the Management of Student Misconduct Policy, 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.
Course Learning Outcomes
This unit is designed to support your development of the following course/study area learning outcomes.LS60 Graduate Certificate in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO2 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, ULO4 - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4 - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO3
LS72 Graduate Diploma in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO2 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, ULO4 - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4 - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO3
LS81 Master of Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO2 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, ULO4, Problem Solving Task, Research Report Communication - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4, Research Report Communication - Practise within a framework of personal accountability, collegiality and ethical judgement, drawing upon Indigenous perspectives, cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO3, Problem Solving Task