Garvan Institute of Medical Research

Role Description 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. - 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 aggregate these data with public resources like gnomAD. - Identifying clinically relevant genetic variants affecting clinical biomarkers, blood types, and pharmacogenomics. - Collaboration with the TenK10K project to generate paired WGS and single-cell RNAseq data from thousands of participants. - Analysis of the impact of complex classes of genetic variation on cell type-specific gene expression. - Augmentation of datasets with additional multi-omics data in 2026. - Investment from Anthropic to enable systematic use of agentic AI for data processing, analysis, and sharing. Qualifications - 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. - Excellent communication skills, with the ability to explain complex concepts to both technical and non-technical audiences. - Demonstrated ability to write scientific manuscripts. - Highly engaged and team-oriented, focused on building novel solutions and addressing important biological and medical problems. Requirements - Working closely with members of the Centre for Population Genomics. - Producing rigorous research results 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. - Complying with Garvan’s workplace policies, especially the Work Health & Safety (WHS) Policy. - Proactively identifying, assessing, and reporting operational, financial, and safety risks. Benefits - Generous salary packaging to save you income tax on your wages. - Ample opportunities for ongoing 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 including cultural leave, conference leave, community service, and study leave. - Discounted Health Insurance. - Lifestyle discounts with community partners.

• Overarching responsibility for the data products of the OurDNA program, specifically around participant recruitment and genomic data analysis workflows. • Design of data solutions, in collaboration with the OurDNA and Software teams, for end-to-end data workflows from pathology labs and CRMs to metadata management and business intelligence tools. • Ensuring that data from under-represented and marginalised groups is treated with the utmost respect and is securely handled at all stages. • Develop specific research data governance policies, in conjunction with the CPG Data Governance Officer. • Managing data flow and coordination across the project through effective vendor management and collaboration. • Facilitate data product management decisions across teams to ensure solutions are consistent, sustainable, flexible and readily adopted. • Capture requirements from a range of technical and non-technical stakeholders, including scientists, software engineers and project managers. • Ability to articulate data governance and management best practice to technical and non-technical audiences. • Collaborate on technical decision making, planning, implementing and documenting data products and pipelines with the relevant teams.