Special engineer

Can you find patterns of needles in genomic haystacks?

High-throughput sequencing (HTS) is a technology that allows for fast and cost-effective characterization of DNA. Department of Medical Genetics at OUS is Norway's largest medical genetics department with over 240 employees and state-of-the-art sequencing equipment. We are expanding our current diagnostic offering based on HTS and our development of knowledge and frameworks for future precision medicine. Bioinformaticians in the Unit for HTS-diagnostics drive the development of new diagnostic analysis pipelines as well as software and methodologies that provide decision support, in particular for genetic variant interpretation. In addition to diagnostic work, the group also collaborates with commercial and academic partners in research and innovation projects (e.g. BigMed.no). We are a diverse, multidisciplinary team and look forward to meeting candidates who can contribute their knowledge, talent and personality to further bioinformatics at OUS. As part of our team, you will work in a fast-evolving field that constantly presents new challenges and possibilities. Our goals for the near future include extending the diagnostic toolkit to structural variants and variants in mitochondrial and repetitive DNA sequences, launch of time-critical diagnostic tests for critically ill newborns, further development of the open-source application "ELLA" (see http://allel.es), and helping to put OUS at the forefront of precision medicine as the field develops.   

Please contact group coordinator Tony Håndstad at tony.handstad@medisin.uio.no (+47 90609379) or unit manager Knut Erik Berge at kberge@ous-hf.no for any questions related to the position. Note that the full suitability of a candidate will be given consideration in the selection and interview process.    

Responsibilities: 

• Analyse variant interpretation data, and in an interdisciplinary collaboration with molecular biologists, lab doctors and other bioinformaticians, recommend how to scale the interpretation process and improve diagnostic quality
• Develop rules and models that provide decision support for novel types of variants and medical contexts, for example mitochondrial, structural, and somatic variants
• Apply and develop algorithms and methods that identify patients having similar genetic/disease profiles
• Contribute to data analyses in our diagnostic production in general, and also participate in forming projects that further our research arm in the areas of variant interpretation and genomic data sharing          

Qualifications

• Higher education in bioinformatics, informatics, statistics or similar disciplines. A PhD degree and good knowledge of genetics/molecular biology is an advantage.
• Experience with quantitative analysis and an ability to structure and communicate results well in writing and presentations. Practical experience with HPC and common data science and ML frameworks is meritable.
• Good programming skills (Python) and proficiency with Linux/CLI, preferably also with basic DevOps like git, Docker, CI, etc.
• Self-motivated to learn and perform, able to work in a structured manner with high attention to details.
• Excellent English speaking/writing skills. Experience with planning research projects is meritable.
  

• We are seeking a motivated colleague who wants to develop genomics analyses that can help the diagnosis of patients suffering from rare diseases or cancer.
• The position is full-time and permanent. For more background information and details, please see the description of the research part of our group at https://www.ous-research.no/digigen/ and http://about.ousamg.io/
  

We can offer

• Work in a very interesting and extremely fast-developing field with high impact on healthcare
• Varied tasks, and autonomy to exercise and develop a range of different skills
• Flexible hours, some remote work possible if desired
• Competent and friendly colleagues to learn from
• Salary dependent on qualifications