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Unit of study_

Diagnostic and Risk Assessment Analysis - GENC5005

Year - 2018

This unit addresses the concept of population genetics and epidemiology and their implications for genetic counselling including gene/allele frequencies, Hardy-Weinberg distribution, impact of consanguinity, founder effects and heterozygote advantage as well as the models, algorithms and software uded in practice. Practical training is provided in risk assessment and probability of outcomes using Bayesian risk calculations that are important in genetic counselling for families with chromosomal anomalies, Mendelian and mitochondrial conditions and polygenic disorders and the application of the algorithms used in cancer genetics.

6 x 1.5h lectures by faculty/guest lecturers with a case study form the text book Read A. and Donnai D. New Clinical Genetics. 2nd Ed. 2011 as the paradigm for the week, integrated with 3 x 1.5h Problem Based Learning (PBL) sessions- SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards.

Risk assessment quiz exercises (10 questions) from Chapters 10, 12 and 14, Read and Donnai (60%, 10%, 30% respectively)

Read A, Donnai D. (2015) New Clinical Genetics. 3rd Edition, Scion Publishing; Nussbaum R, McInnes R and Willard H. Thompson and Thompson Genetic in Medicine. 8th Edition 2016 Elsevier ISBN 978 1 437706 96 3.

Assumed knowledge
Knowledge and skills gained in GENC5002 and GENC5001


Faculty: Medicine (Sydney Medical School)

Semester 2

30 Jul 2018

Department/School: Genetic Medicine
Study Mode: Normal (lecture/lab/tutorial) day
Census Date: 31 Aug 2018
Unit of study level: Postgraduate
Credit points: 3.0
EFTSL: 0.063
Available for study abroad and exchange: No
Faculty/department permission required? No
More details
Unit of Study coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School
HECS Band: 3
Courses that offer this unit

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