Job Title Research Officer - Repeat Expansions Job Description An outstanding opportunity is available for a Research or Senior Research Officer to join the Bahlo Laboratory in the Genetics and Gene Regulation Division at Australia’s pre-eminent biomedical research institute. The Bahlo lab is a computational biology and statistical genetics group that seeks to identify and understand genetic risk factors of human diseases, with a strong interest in repeat expansions and the diseases that these mutations cause, such as Huntington’s disease. The lab leverages cutting-edge computational tools to analyse massive genomic datasets from local and international human cohorts to detect, describe and understand repeat expansions, including gaining a better understanding of the disease risk associated with these. The multi-disciplinary research team collectively have expertise in many aspects of human genetics research, from rare variant analysis to GWAS studies, using array, short-read and long-read sequencing data. Well established national and international collaborations with molecular biologists and clinicians give access to outstanding genomic cohorts. We are seeking a highly motivated and self-directed Research Officer with a background in computer science to join our research team to work on repeat expansions. The Bahlo lab has worked on repeat expansions for more than eight years and has an internationally recognised track record in the area with discoveries of novel repeat expansions, development of methods and in the diagnostic arena. The successful applicant will work to develop novel repeat expansion analysis methods in addition to investigating repeat expansion population variation and their impact on disease, including quantitative traits. The successful candidate will be supervised by Prof. Melanie Bahlo and will collaborate closely with a multidisciplinary team of researchers, including bioinformaticians, molecular biologists and clinicians analysing predominantly human sequencing data, focusing on repeat expansion disorders. Selection Criteria Essential Knowledge and Skills: A PhD in computer science or a quantitative discipline with demonstrated high level computational expertise Prior experience with analysis of large and mega-scale (biobank) cohorts, including cloud platforms Prior experience with analysis of short-read and long-read sequencing data Experience with high-performance computing environments Experience in developing and testing algorithms Exceptional ability to summarise research findings graphically Ability to write scientific papers Ability to communicate effectively with scientists from other disciplines Desirable Knowledge and Skills: Experience working in a multidisciplinary team Extensive programming experience using R or python programming language Experience with git, GitHub or other version control systems Experience with GATK or similar sequencing analysis pipelines Experience with biobanks, such as UK Biobank and All of Us, and biobank scale data Interest in neurological and retinal disorders, in particular repeat expansion disorders Appreciation of ethical dimensions of human genetic data analysis Personal Qualities: Excellent organisational and time management skills Excellent communication skills, including presentation and writing skills A passion for human genetic research Attention to detail with a focus on achieving reproducible results An interest in neurological and retinal disorders, including ataxia, epilepsy, motor neuron disease Terms of Appointment This position is available for 2 of years in a full time capacity, with the potential for extension. Salary is Academic Level A6-B6 ($101,039 - $135,568). Up to 17% superannuation and very attractive salary packaging options are available. Childcare is available on site and further financial support for childcare is available upon application. General enquiries can be directed to Professor Melanie Bahlo bahlowehi.edu.au A Research Officer position description is available here. A Senior Research Officer position description is available here. How to Apply Please apply by uploading your CV, cover letter and a document addressing the key selection criteria in pdf format. Application Closing Date: 29 November 2024