
Rna Bioinformatician
6 days ago
**Together we are making a difference for kids living with genetic disease.**
Children’s Medical Research Institute (CMRI) was Australia’s first dedicated paediatric research facility and is now one of the world’s most highly regarded independent medical research organisations. Our research focuses on the four key areas impacting children’s health: cancer, genomics and genetic diseases, neurobiology, and embryology.
**We are looking for an RNA Bioinformatician to join our team to**:
- Enable ground-breaking human genetics research
- Join us on our mission to embed RNA diagnostics into clinical practice
- Integrate data science with functional genomics
**Our Mission**
Our vision is to develop pathways to embed RNA Diagnostic testing, the new frontier in genomic diagnostics, into clinical practice. Our goal is to improve diagnosis and treatment options for the tens-of-thousands of Australians living with rare genetic diseases or inherited cancer predisposition.
Professor Sandra Cooper is leading the ‘RNA for Rare Disease project’ (RNA4RD), a 3-year, national research program involving 25 investigators across Australia.
**Help change clinical practice**
At RNA4RD, we are dedicated to developing and clinically validating rigorous, standardised Informatics practices for clinical RNA-sequencing. As part of our exceptional RNA4RD Genomics Informatics team, your role will bridge the gap between Informatics, Data Analytics and the clinical and technical aspects of diagnostic RNA-sequencing.
You will be a key member of our team seeking to: quantify of transcript expression in RNA-Sequencing data derived from individuals affected with genetic conditions, and; develop (and clinically validate) advanced RNA meta-analytical software tools that ignite the diagnostic potential of clinical RNA testing.
**About you**
**What will you bring to this role?**
- An undergraduate degree in Engineering, Information Technology, Medical Sciences, Genetics, or relevant field
- You have an advanced understanding of human genetics and genomic informatics, and hands-on experience in the alignment and analysis of massively parallel sequencing data.
- Preferred applicants will be statistics-oriented data scientists, comfortable developing solutions in R and Python, with a detailed understanding of data structures common to genomics (FASTQ, bed file, GTF).
- An understanding of RNA splicing and RNA-Sequencing analysis, including use of alignment tools (for example, STAR HISAT), will be a significant advantage, as is any experience developing machine-learning solutions.
**Why join us?**
**What we can offer you**
- The time commitment for this role is ideally 4 or 5 days per week.
- There is capacity for some flexibility in working arrangements.
- The appointment is initially for a fixed term of 12 months with the possibility to extend.
- Competitive remuneration package in accordance with qualifications and experience.
- Excellent not-for-profit tax benefits
- A flexible and supportive work environment where everyone’s contribution is highly valued.
- We kindly request no unsolicited resumes or approaches from Recruitment Agencies. We will not be responsible for any fees related to unsolicited resumes._
**Job Types**: Full-time, Fixed term
Contract length: 12 months
**Benefits**:
- Life insurance
- Maternity leave
- Parental leave
- Salary packaging
- Work from home
Schedule:
- Day shift
Work Authorisation:
- Australia (preferred)
Work Location: In person