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Unit Overview


Students investigate the genetic basis of polygenic or complex traits and disorders such as diabetes, cardiovascular disease and neurological disorders with an emphasis on the current strategies that can be employed to map disease loci. A major focus is the use of next generation sequencing and quantitative transcript data using integrative or genetical genomic approaches. A further emphasis is the development of molecular prioritisation strategies leading to the identification of functional genetic variation that is causal for a particular disease phenotype. Routes to translation of functional genetic information into clinical practice are explored. Lecture topics include family studies of complex disease, association studies and linkage disequilibrium, limitations of genome-wide association studies, pathway analysis using genetic tools, and genome-wide views of disease. At the completion of the unit students are able to understand current strategies for the application of next generation sequencing studies in complex disease research and to analyse and interpret results for understanding genetic influences in complex disease. They also have an appreciation of the possible impact of complex disease genetics on the practice of medicine.

6 points
Not available in 2024UWA (Perth)Face to face
Details for undergraduate courses
  • Level 3 elective

Students are able to (1) understand current strategies for the application of next generation sequencing studies in complex disease research; (2) understand and develop strategies to study a particular complex phenotype; (3) analyse and interpret results for understanding genetic influences in complex disease; and (4) have a practical knowledge of the technology used to generate genetic data and an appreciation of the appropriate statistical analyses to extract data.


Indicative assessments in this unit are as follows: (1) lab worksheets and presentations; (2) mid-semester test; and (3) a final examination. Further information is available in the unit outline.

Student may be offered supplementary assessment in this unit if they meet the eligibility criteria.

Unit Coordinator(s)
Professor Lawrie Abraham
Unit rules
PATH2211 Molecular Medicine.
or GENE2250 Principles of Inheritance.
or PATH2210 Fundamentals of Pathology and Laboratory Medicine
Contact hours
lectures: 2 hours per week
tutorials: 5 hours per semester
labs: 3 hours per week
  • The availability of units in Semester 1, 2, etc. was correct at the time of publication but may be subject to change.
  • All students are responsible for identifying when they need assistance to improve their academic learning, research, English language and numeracy skills; seeking out the services and resources available to help them; and applying what they learn. Students are encouraged to register for free online support through GETSmart; to help themselves to the extensive range of resources on UWA's STUDYSmarter website; and to participate in WRITESmart and (ma+hs)Smart drop-ins and workshops.
  • Unit readings, including any essential textbooks, are listed in the unit outline for each unit, one week prior the commencement of study. The unit outline will be available via the LMS and the UWA Handbook one week prior the commencement of study. Reading lists and essential textbooks are subject to change each semester. Information on essential textbooks will also be made available on the Essential Textbooks. This website is updated regularly in the lead up to semester so content may change. It is recommended that students purchase essential textbooks for convenience due to the frequency with which they will be required during the unit. A limited number of textbooks will be made available from the Library in print and will also be made available online wherever possible. Essential textbooks can be purchased from the commercial vendors to secure the best deal. The Student Guild can provide assistance on where to purchase books if required. Books can be purchased second hand at the Guild Secondhand bookshop (second floor, Guild Village), which is located on campus.
  • Contact hours provide an indication of the type and extent of in-class activities this unit may contain. The total amount of student work (including contact hours, assessment time, and self-study) will approximate 150 hours per 6 credit points.