Rare Disease Bioinformatician

Overview
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 ML and AI tools for rare disease diagnosis.
This unique role offers the opportunity to apply your computational and analytical expertise to real-world biomedical challenges by critically assessing the potential for ML models to have a translational impact in clinical genomics.
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

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

For full viewing of responsibilities and requirements please refer to the position description.
Any specific questions related to this position should be directed to Toby Sargeant at toby.sargeant@populationgenomics.org.au.
What's in it for you?

Benefit from salary packaging, including entertainment and novated leases
Contribute directly to improving rare disease diagnosis by evaluating cutting-edge ML/AI tools for clinical application
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 take 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
If you believe this role is a good fit for you, please apply by submitting:

Your resume
A cover letter addressing the selection criteria

Ensure these documents are combined into a single PDF file.
We welcome individuals of diverse genders, ages, ethnicities, cultural backgrounds, abilities, religions, and sexual orientations in our workplace.
We actively encourage talented individuals from all walks of life to apply for our job openings.
Our commitment lies in fostering a workplace that is barrier-free and inclusive, aiming to attract the most skilled candidates.
For any questions related to the recruitment process, feel free to reach out to our Recruitment team at recruitment@mcri.edu.au.
Please include the position number and job title in the subject line.
Do not share your application via this email address.
Applications close: 1 September 2025 AUS Eastern Daylight time
Position Details

Seniority level: Entry level
Employment type: Full-time
Job function: Research, Analyst, and Information Technology
Industries: Research Services

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