RD Genomic Interpretation Analyst

Salary: $95,000- $110,000 + 11.5% super + salary packaging (depending on experience) 

Employment Type: 2-year fixed term 

SNAPSHOT OF BENEFITS 

• Generous salary packaging to save you income tax on your wages thereby boosting your monthly take home pay (max. $15,900 general expenses + $2,650 meals/accom) 

• Ample opportunities for on-going training and development 

• Stimulating, diverse and highly international research environment 

• Flexible work arrangements e.g. start / finish times  

• 18 weeks paid parental leave for both parents including paid superannuation 

• A range of additional leave types to meet your personal needs including cultural leave, conference leave, community service and study leave 

• Discounted Health Insurance 

• Lifestyle discounts with our community partners 

WHAT YOU WILL DO 

ESSENTIAL DUTIES and RESPONSIBILITES 

Rare Disease Genomics and Discovery  

• Conduct comprehensive genomic investigations, identifying and prioritising novel genes and variants associated with rare kidney diseases.  

• Analyse  undiagnosed  families,  formulating  hypotheses  for  rare  or  complex  genetic variants and collaborating with researchers and clinicians to deliver research diagnostic strategies.  

• Contribute to gene discovery and functional validation, applying cutting-edge tools such as long-read sequencing, and multi-omics integration.  

Collaborative Analysis  

• Actively  participate  in  multidisciplinary  team  (MDT)  discussions,  sharing  insights  into variant interpretation, gene discovery, and functional validation strategies.  

• Analyse candidate variants that warrant experimental or clinical follow-up and ensure their prioritisation for downstream investigation.  

• Conduct  quality  control  checks  on  sequencing  data,  ensuring  accuracy  and  reliability across all datasets to support robust analyses.  

• Act as a direct point of contact for clinicians and researchers, providing timely insights into variant interpretations and assisting with case discussions.  

• Work  closely  with  research  staff  and  clinical  experts  to  prioritise  and  refine  analysis workflows, ensuring robust and efficient processes.  

• Collaborate with teams at the Broad Institute, Harvard and the Victorian Clinical Genetics Service (VCGS) to compare and harmonise variant interpretation approaches and analysis methods,  as  well  as  the  development  of  machine  learning  algorithms  for  improved automated classification.  

Knowledge Building and Capacity Development  

• Document  findings,  workflows,  and  standard  operating  procedures  (SOPs)  to  promote efficiency and knowledge sharing across teams.  

• Support the development of innovative tools and protocols to streamline variant interpretation and data management.  

• Mentor and train team members and collaborators in advanced genomic analysis techniques and best practices for variant interpretation.  

ABOUT YOU 

EXPERIENCE, KNOWLEDGE AND SKILLS REQUIRED 

• Undergraduate or postgraduate education in genetics, molecular biology, genetic counselling or a related field.  

• Strong background in molecular mechanisms, functional genomics, and advanced genomic technologies.  

• Experience in gene discovery, rare disease research, and genomic data analysis. Familiarity with kidney disorders and related research is highly desirable.  

• Proficient in utilising a range of computational tools and databases to support accurate and efficient interpretation of genomic variants and candidate prioritisation.  

• Familiarity with sequencing technologies (short-read and long-read) and quality assessment.  

• Strong  analytical  skills  and  a  proactive  approach  to  solving  complex  technical  and scientific challenges.  

• Autonomous  and  self-motivated:  given  a  set  of  specifications  and  a  list  of  families  or variants, able to define their schedule and maintain motivation to complete interpretation in a defined time frame.  

• Excellent written and verbal communication skills for effective collaboration with clinicians, researchers, and computational experts. 

• Highly collaborative: able to work with a broad team of experts in variant interpretation, genomics, computational biology, and software engineering to complete their tasks.  

• A problem-solving mentality: able to navigate a complex and dynamic series of technical obstacles,  and  to  pivot  rapidly  when  needed, someone  who  identifies  problems  even  if they fall outside their immediate mandate, and works with other team members to solve them 

ABOUT GARVAN 

Garvan Institute of Medical Research is an independent Medical Research Institute (MRI) in Sydney, delivering scientific and clinical impact on a global basis and in partnership with organisations that share our vision. We are proud to be one of Australia’s largest and most highly regarded MRI’s.