
Rare Disease Bioinformatician
3 days ago
**Role Type**: 2-year full time contract
**Salary**: $105,000 - $126,000 p.a plus superannuation
**The opportunity**:
The Centre for Population Genomics (CPG) Rare Disease Program is seeking a Bioinformatician to join our multidisciplinary team and support the evaluation of machine learning (ML) and artificial intelligence (AI) tools for rare disease diagnosis.
About your new team
The Centre for Population Genomics (CPG) is a non-profit research organisation at the cutting edge of genomic medicine, combining biomedicine with data science. A joint initiative between the Garvan Institute (Sydney) and the Murdoch Children’s Research Institute (Melbourne), CPG builds large-scale, long-term genomic resources with a focus on real-world scientific and clinical impact. With one of Australia's largest genomic datasets and a multidisciplinary team, CPG leads innovative projects shaped through community co-design. Operating under a remote-first model, CPG offers flexible work conditions and clear career pathways for technical and project-focused roles outside the traditional academic track.
**Your responsibilities include**:
As part of our dedicated AI/ML team, your core focus will be evaluating cutting-edge ML/AI tools for rare disease diagnosis, including:
Systematically identifying and reviewing promising ML/AI tools from the research community
Developing and refining evaluation frameworks to assess performance, scalability, and safety
Benchmarking tool performance against established genomic analysis methods
Conducting feasibility assessments of tool deployment (including cloud/HPC readiness)
Validating selected tools using real-world and simulated genomic datasets
Contributing to documentation, internal reports, and publications
**What we need from you**:
A degree in Bioinformatics, Data Science, Computer Science, Statistics, or a related quantitative field
Proficiency in Python and experience working in Linux/Unix environments
Hands-on experience analysing large datasets (HPC or GCP experience is a plus)
A foundational understanding of human genetics and familiarity with genomic data formats
Strong grasp of machine learning fundamentals and performance evaluation methods
Excellent problem-solving, documentation, and communication skills
The ability to work independently and collaboratively in a remote-first team
What’s in it for you?
Benefit from salary packaging, including entertainment and novated leases
Enjoy work-life balance through a remote-first structure with flexible working hours
Collaborate across Sydney and Melbourne while working from anywhere in Australia
Be part of a mission-driven, collaborative environment tackling some of the most challenging problems in genomic medicine.
Who we are
Murdoch Children’s Research Institute envisions a transformative future for child health. Our institute is a hub of impactful scientific breakthroughs, particularly in early interventions, enhanced diagnosis, prevention, and potential cures. We thrive on collaborative, multidisciplinary problem-solving to address challenging queries in child health. Committed to inclusivity and respect, we foster a positive working environment that values diverse backgrounds and experiences. As a proud member of the Australian Network on Disability and a dedicated supporter of Science Australia Gender Equity (SAGE), we uphold principles of equal opportunity and diverse representation.
We are committed to the safety of children and young people and takes a zero-tolerance approach to all forms of child abuse, exploitation and harm. Child safety is prioritised in our decision-making at all levels of the Institute.
Join Us
Your resume
A cover letter addressing the selection criteria
Ensure these documents are combined into a single PDF file.
No recruitment agencies please.
Position Description
**Applications close**: 1 September 2025 AUS Eastern Daylight time
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