Clinical Genomics Data Analysis: A Practical Course

Workshop Information

City Location Date Cost
Sydney The Garvan Institute of Medical Research 14th-18th December 2015 $700.00 incl. GST

Registrations for this workshop have now closed.

Workshop Content

  • Genomics and genome structure;
  • Mutation calling and pathogenicity assignment;
  • Principles and practice in genome filtering;
  • Copy number variation;
  • Quality metrics;
  • Gene and protein modeling for enriched functional data;
  • Consent; and
  • An introduction to the special features of cancer genomic data.

Workshop participants will receive time-limited access to education-focused genomic data sets on the Garvan Institute€™s variant filtration platform for clinical genomics: Seave

Learning Objectives

  • To explore and examine clinical genomic data in depth;
  • To develop an understanding of processes that underpin clinical genomic data analysis; and
  • To obtain hands on experience in identifying variants and deducing their impact.

Recommended Participants

Clinical geneticists, genetic counsellors, pathologists, laboratory scientists, bioinformaticians and clinician-researchers who:

  1. receive genomic reports, are interested in understanding variant filtering, pathogenicity assignment, quality metrics; and
  2. may be interested in becoming genomic data analysts.


A working understanding of Mendelian inheritance: recessive, dominant, and X-linked. A background in genetics, medicine or genetic counselling or affiliated laboratory sciences; a clinician-researchers should have had access to genomic data.

Draft Program

For a draft program please click here.

Registration and Payment

There are two options for course registration:

  1. 5 days, including Mendelian coursework, cancer genomics and a trial case with individual feedback from clinical convenor = $700
  2. 4 days, including Mendelian coursework (no cancer or trial case) = $500

Workshop places are limited due to the significant practical component of the workshop, and NSW/ACT applicants will be prioritised. To manage high demand, we a€™re asking workshop applicants to complete the online application below, which will provide us with insight into their experience and guide the course content. Applicants will be notified within two weeks of their application as to whether a place is available in the course or if they will need to be placed on a wait list. This page will be updated once the workshop is full.

Course Convenor

  • Tony Roscioli (Rare Disease Genomics, Garvan Institute of Medical Research)

Logistics Co-ordinator

  • Bronwyn Terrill (Garvan Institute of Medical Research, Sydney)
  • Bioplatforms Australia, Sydney

Contact Us

For further information contact Bronwyn Terrill at or Andrew Gilbert at

Register for future courses

Register your interest in future Clinical Genomics workshops

* indicates required

For more information please contact Bronwyn Terrill

02 9355 5842