First listed on: 22 March 2019

DNA Variant Interpretation Specialist

  • World class research institute
  • Cutting edge technology
  • Inner city location, close to public transport

About us

The Victor Chang Cardiac Research Institute is dedicated to finding cures for cardiovascular disease through world class medical research. Established in 1994, it is the legacy of legendary heart transplant surgeon Victor Chang. Renowned for the quality of its breakthroughs, the Victor Chang Institute is working to discover better ways to diagnose, treat, and ultimately prevent the onset of heart disease..

The role

We are seeking an analytical thinker with a strong background in embryology, genetics, and next generation sequencing to join a multidisciplinary team (clinicians, biologists, bioinformaticians) to genetically diagnose patients with congenital heart disease. 

Duties and responsibilities include:

  • Interpreting genetic variants and evaluating clinically actionable information from genome sequencing data
  • Assessing evidence for genes involved in congenital heart disease from databases and the literature
  • Working with clinical and scientific experts in congenital heart disease including our collaborators at The Children’s Hospital at Westmead
  • Working part time at The Children’s Hospital at Westmead
  • Coordinating with a team of bioinformaticians
  • Maintaining and updating an in-house database of genes responsible for congenital heart disease

About you

Are you a researcher with a passion for genomics and data analysis? Are you looking to work in a multidisciplinary team to help find the causes of congenital heart disease?

We would like to meet you if you have:

  • Education at BSc or higher in genetics, molecular-cell biology and embryology, or equivalent disciplines
  • In-depth understanding of, and experience in, genetic variation and genomics
  • Ability to efficiently query databases and carry out data comparisons
  • Exposure to mapping genetic variants to reference sequences and standardised variant nomenclature
  • Experience interpreting published scientific papers
  • Variant interpretation experience with a strong background in disease genetics

What we offer:

  • Salary packaging

  • Bonus superannuation

  • State of the art facilities

  • Stimulating work setting focussed on cutting edge medical research

  • Collaborative team environment

We strive to ensure our staff and students enjoy a great working environment. We value and are committed to providing a working environment that embraces diversity and gender equity and promotes flexible working arrangements for staff to balance working requirements and personal needs.

Come and work with us & help make a difference.

How to apply:
  • For further information about the role, please visit our website -
  • To apply please send a cover letter, your CV and details of three referees to or click on Apply Now.

Closing date:
Applications close on 1 May 2019

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