LQN206 Cytogenomics
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: | LQN206 |
|---|---|
| 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: | LQN206 |
|---|---|
| Credit points: | 12 |
Overview
Clinical and research scientists working in cytogenomic laboratories need to be knowledgeable of the germline and somatic conditions which are commonly referred to laboratories, the cytogenetic tools available to test for these, which specific cytogenomic tests are indicated for a given presentation, and the interpretation of results.
Learning Outcomes
On successful completion of this unit you will be able to:
- Describe basic and advanced cytogenetic techniques used in diagnostic and research genomic laboratories.
- Analyse cytogenetic and cytogenomic findings in relation to health, disease, clinical information, prognosis and therapy.
- Apply knowledge of clinical disease states to abnormalities detected using cytogenomic techniques.
- Generate reports which articulate how changes to the cytogenome result in human disease.
Content
- Cytogenomic variants, both polymorphic and pathogenic, and how to distinguish between the two
- Clinical features of common cytogenomic diseases
- Prognosis of and therapy for constitutional clinical syndromes and acquired malignant disease states
- Cytogenomic processing of prenatal and postnatal constitutional samples and oncology samples
- Laboratory techniques and processes including media preparation, tissue culture, sterile practices, and appropriate quality control activities
- The principles of cytogenomic workflows including the reason for each step, the effect of each step on the end result, and how to rectify processing errors (where possible)
- Banded metaphase chromosomes analysis by karyotyping and classify karyotypes using the current International System for Human Cytogenomic Nomenclature (ISCN)
- Karyotypic result interpretation including aneuploidy (whole or part of a chromosome) and structural rearrangements, with reference to the clinical referral
- The FISH procedure for metaphase and interphase preparations; interpretation of FISH results including the meaning of abnormal signal patterns and classification using ISCN; the performance and application of different probe types
- The different types of genomic microarrays and how to evaluate their performance and application
- Microarray results including gains, losses and copy neutral loss of heterozygosity (uniparental disomy, long continuous stretches of homozygosity); and classification of microarray results using ISCN
- Planning appropriate further testing that may be required following initial cytogenomic investigation (additional methods, tissues, family members)
- The methodology of non-invasive prenatal testing (NIPT) and its advantages and disadvantages in the field of prenatal diagnosis
Learning Approaches
This unit is designed to introduce you to the core concepts of cytogenomics. 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 announcements in the Canvas site for you in terms of appropriate self-pacing of your study during the semester. You will be expected to engage in online discussions and complete formative assessment tasks to consolidate your learning.
You will be encouraged to read widely and to think critically about the nature and scope of how cytogenomics 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 course 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 as stated above and feedback will be offered to the group through the Announcements page on the Backboard site.
Assessment
Overview
There are three summative assessment items in LQN206. Assessment 1 consists of a written report which provides you the opportunity to draw on the knowledge gained during the course in order to critically appraise the literature and to write a review which answers a specific cytogenomics research question. Assessment 2 is a case study which provides you the opportunity to synthesise the knowledge gained during this course in order to summarise the clinical features of a condition associated with a cytogenetic anomaly and to explain the genetic basis of the condition, additional testing and follow-up studies required, depending on the initial method of diagnosis. Assessment 3 is a written exam consisting of a mixture of multiple choice, short answer and long answer questions. This exam will be administered online via Canvas.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Report
In this assessment, you will be given a research question referencing a cytogenetic anomaly. You will need to critically appraise the literature to outline the pathogenesis of the cytogenomic disease and describe the clinical consequences. Your report will also outline how best to further investigate the anomaly and evaluate the molecular mechanisms leading to the rearrangement.
This is an assignment for the purposes of an extension.
Assessment: Research Paper
In this assessment, you will be presented with a case study of a particular cytogenetic anomaly. You will need to synthesise all the information presented in the unit; interrogate the literature and additional resources to summarise the clinical features of the resultant condition; describe the genetic basis of the disease; and explain any further necessary testing or follow up studies, if applicable.
This is an assignment for the purposes of an extension.
Assessment: Test
This online assessment piece is designed to ensure that you have a sound knowledge of the essential elements of cytogenomics needed for those who work in this field. It will consist of multiple choice, short answer and long answer questions. 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.