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Genomic Medicine Specialist

3 weeks ago


Melbourne, Victoria, Australia beBeeBioinformatics Full time $105,000 - $126,000
Rare Disease Bioinformatics Role

At the forefront of genomic medicine, we are seeking a skilled bioinformatician to contribute to cutting-edge ML/AI tool evaluation for rare disease diagnosis.

This is an opportunity to apply computational and analytical expertise to real-world biomedical challenges.

About Our Vision

We envision a transformative future for child health through impactful scientific breakthroughs in early interventions, enhanced diagnosis, prevention, and potential cures.

Your Responsibilities
  • Systematically identify and review promising ML/AI tools from the research community.
  • Develop and refine evaluation frameworks to assess performance, scalability, and safety.
  • Benchmark tool performance against established genomic analysis methods.
  • Conduct feasibility assessments of tool deployment (including cloud/HPC readiness).
  • Validate selected tools using real-world and simulated genomic datasets.
  • Contribute 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.