The Centre for Population Genomics (CPG) is a joint national initiative of Garvan in Sydney and the Murdoch Children’s Research Institute (MCRI) in Melbourne. The Institutes are national leaders in genomic research, with complementary strengths spanning large-scale genomics, data science, population health, and clinical impact.
The CPG is a young not-for-profit research initiative led by founding Director Daniel MacArthur to build a more equitable future for genomic medicine. We are a remote-first, geographically distributed hub for innovation in genomics, data science, and clinical translation, with over 50 team members located across Australia and New Zealand.
THE OPPORTUNITY
This is a 2-year full-time position within the Population Genomics team at the CPG. The successful candidate will design and lead a research project as part of CPG’s recently announced partnership with Anthropic AI to accelerate genomics research at Garvan. The project will focus on understanding the clinical and/or functional consequences of genetic variation discovered through CPG’s efforts to build public population genomic resources that reflect Australia’s remarkable population diversity. For example:
1. We have thoughtfully engaged with Australian communities who are globally under-represented in genomic research (e.g. Vietnamese, Filipino, Pasifika and Eastern Mediterranean communities), generated whole genome sequences from these participants, and built high throughput pipelines to seamlessly aggregate these data with public resources like gnomAD. In line with CPG's mission of rapid translation, the next stage focuses on identifying clinically relevant genetic variants (for example, affecting clinical biomarkers, blood types, pharmacogenomics) in these populations and feeding findings back into clinical and public resources.
2. We also closely collaborate with the TenK10K project (co-led by Joseph Powell and Daniel MacArthur), which has further generated paired WGS and single-cell RNAseq data from thousands of participants (both healthy and recruited based on disease status). This resource offers opportunities for analysis of the impact of complex classes of genetic variation (such as structural variants) on cell type-specific gene expression, and the effects of variant-specific perturbation on downstream outcomes such as disease risk.
3. Both these datasets will be further augmented with additional multi-omics data in 2026, enabling research into the impact of population-specific and complex variation on a range of biological outcomes, and providing insights that can inform clinical practice and therapeutic development.
The chosen research project will benefit from the investment from Anthropic to enable systematic use of agentic AI, accelerating the development of pipelines and tools to process, analyse and share this data. The PopGen team is unusual for an academic setting in how single-mindedly it optimises for rapid, real-world impact, and agentic AI is the newest tool to support that ambition.
Salary: Up to $102,500 - $131,900 + 14% superannuation + salary packaging (depending on experience)
Employment Type: 2-year fixed-term , full-time
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 RESPONSIBILITIES
The key responsibilities include:
Research Excellence
Working closely with members of the Centre for Population Genomics, including participating in regular team and cross-team meetings, and engaging in discussions via Slack
Producing rigorous research results, generating publication-quality images and text, and leading the development of peer-reviewed publications
Presenting research methods and results at national and international conferences
Producing and submitting fellowship and other funding applications
Collaborating productively with national and international research partners
Contributing to building CPG’s scientific culture, through regular engagement at science meetings and journal clubs, and connecting with institutional networks
Compliance and Risk Management
Health & Safety: Comply with Garvan’s workplace polices (as amended from time to time) and especially Garvan’s Work Health & Safety (WHS) Policy, including working in accordance with the WHS management system at all times, as safety is Garvan’s number one priority
Risk Management: Proactively identify, assess, and report operational, financial, and safety risks associated with the duties of this role. The incumbent is required to adhere to the organisation’s Risk Management Framework, ensure all activities are conducted in accordance with established policies and procedures, and contribute to a culture of continuous improvement by suggesting mitigation strategies for identified hazards or inefficiencies
ABOUT YOU
KNOWLEDGE, SKILLS AND QUALIFICATIONS REQUIRED
The key skills and experience include:
A PhD in human genetics, computational biology, population genetics, functional genomics, or a related field
Experience with large-scale human genome studies, such as GWAS or QTL association studies
Experience wrangling large datasets and complex data types such as WGS, WES, genotyping, bulk RNA-seq and/or scRNA-seq data
Fluent in at least one programming language (Python and/or R preferred) and the Linux command line interface. Experience working with high-performance cloud computing environments, and agentic AI tools strongly preferred
Software development experience, including the use of git to manage code changes, leveraging pull requests to give and receive constructive feedback, and participating in peer programming sessions
Excellent communication skills, with the ability to explain complex concepts relating to their work to both technical and non-technical audiences, through a mix of verbal and written communication, and via the creation of effective data visualisations
Demonstrated ability to write scientific manuscripts
Highly engaged and team-orientated, focused on building novel solutions and addressing important biological and medical problems through tight collaboration with team members from a diverse range of backgrounds
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.
Our vision is global leadership in discoveries to impact and our enduring purpose is to impact human health, by harnessing information encoded in our genome.
We seek to see our world-class discovery research achieve life-changing impacts, not only for individual patients with rare diseases, but for the many thousands affected by complex, common disease.
Garvan promotes a diverse workplace and is committed to the principles of equity, diversity, inclusion and belonging. We are always looking for culture ‘add’, not culture ‘fit’ and are building diverse teams with great sets of complementary styles and skills to help deliver our important work effectively.
HOW TO APPLY
To apply for this position, please submit your application with a CV and cover letter as one document, stating why you are interested in this role. We are reviewing applications as they are received. If you think you’re the right person for this role, we’d love to hear how your capabilities, achievements and experience set you apart. Only applicants with full working rights in Australia are eligible to apply for this role.
The Royal Children's Hospital (RCH) has been providing outstanding care for Victoria's children and their families for over 147 years.
We are the major specialist paediatric hospital in Victoria and our care extends to children from Tasmania, southern New South Wales and other states around Australia and overseas.
With a passionate, highly skilled and committed staff campus wide of over 5,000, we provide a full range of clinical services, tertiary care and health promotion and prevention programs for children and young people.
We are the designated state-wide major trauma centre for paediatrics in Victoria and a Nationally Funded Centre for cardiac and liver transplantation.
When it comes to training and research we partner with the very best. Our campus partners, the Murdoch Childrens Research Institute (MCRI) and The University of Melbourne Department of Paediatrics, along with the RCH Foundation, are on site with the hospital in Parkville. Together, we are committed to improving the health outcomes for children today and in the future.
In 2016–17, more than 85,654 children attended our Emergency Department, 322,291 specialist clinic appointments were held which was almost 70,000 more than the previous year, more than 17,000 surgeries were performed and more than 48,552 children were admitted to our wards.
