Advanced Clinical Variant Interpretation for Medical Scientists

Advanced Clinical Variant Interpretation for Medical Scientists

Two one-day in-person workshops (Wed 16 Nov and Mon 12 Dec), each preceded by interactive online pre-reading periods.

By Melbourne Genomics Health Alliance

Location

The Royal Children's Hospital, Melbourne

50 Flemington Road Rooms LL10.46a & b, Level 1, The Learning Precinct Parkville, VIC 3052 Australia

About this event

This course is designed for medical scientists who are already doing variant interpretation for rare germline disorders and are ready to move to the next level. It will also be of interest to clinicians and researchers involved in this field.

We provide a refresher on the principles and processes of variant interpretation via online prereading modules, then extend participants’ skills and knowledge in the workshops via complex case work and lectures on advanced topics such as:

Gene/disease associations

  • deciphering disease mechanisms
  • gene curation

Functional studies

  • study types
  • ClinGen guidelines

Clinical considerations

  • penetrance and variable expressivity
  • mosaicism
  • additional/incidental findings
  • report writing

Technical considerations

  • mapping and transcript issues
  • choosing the right genomic test
  • curation of whole genome data
  • CNVs
  • interpretation of trio data

INSTRUCTORS

  • A. Prof Sebastian Lunke, Head of Division of Genetics and Genomics, Victorian Clinical Genetics Services
  • Prof Tiong Tan, Clinical Geneticist, Victorian Clinical Genetics Services
  • Dr Bryony Thompson, Senior Genomics Scientist, Royal Melbourne Hospital

PLEASE NOTE: Due to unforeseen circumstances, workshop dates have been recently changed, the correct dates are as below.

COURSE STRUCTURE

WORKSHOP 1:

Date: Wednesday, 16 November

Online pre-reading:

  • Opens: Tuesday, 4 October
  • Read time estimate: variable, up to ~35 hours. Learners review modules relevant to their ongoing learning in a self-directed manner (noting all modules will be assumed knowledge at the workshops)
  • Content: foundational theory, concepts and practice of variant interpretation, video demonstrations of key processes, practical exercises and simple case studies

WORKSHOP 2:

Date: Monday, 12 December

Take-home case work:

  • Opens: Thursday, 17 November
  • Read time estimate: 8 hrs

Click ‘Register’ to express interest in the course events and receive further details about the workshops.

Organised by

Melbourne Genomics Health Alliance

Genomics has huge potential to improve healthcare. Looking at the genome can help diagnose illness more quickly and easily, as well as help understand what treatment or care might be most effective.

Melbourne Genomics is an alliance of 10 leading healthcare and research organisations dedicated to bringing the global knowledge of genomics to benefit the individual care of Victorians.

Together, The Royal Melbourne Hospital, The Royal Children’s Hospital, The University of Melbourne, The Walter and Eliza Hall Institute, the Murdoch Children's Research Institute, the CSIRO, the Australian Genome Research Facility, the Peter MacCallum Cancer Centre, Austin Health and Monash Health are forging a path forward for patients, clinicians and researchers to benefit from the enormous potential of genomics.

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