Senior Bioinformatician - Rare Developmental Disorders
We are looking for an experienced bioinformatician to be responsible for the informatics and data infrastructure, and perform research analyses, for major ongoing translational genetics studies focusing on rare developmental disorders, within the research group of Matthew Hurles, working closely with our clinical collaborators.
This role will involve opportunities to identify and feedback much-needed diagnoses for children who do not currently have a known cause for their severe condition, as well as to make important research discoveries.
About the Research:
These translational genetics studies include the Deciphering Developmental Disorders (DDD) study (www.ddduk.org) which is resulting in the diagnosis of thousands of previously undiagnosed children and is having major translation (PMID: 25529582) and research (PMID: 25533962) impact. These studies also include working with the 100,000 genomes project (https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/), coordinated by Genomics England in partnership with the UK National Health Service, which includes over 70,000 genome sequences from rare disease families. This partnership is continuing to sequence rare disease families as part of routine diagnostic practice, and make these data available to researchers.
About the Role:
The vast amount of data generated by these translational genetics studies require careful data management, robust data processing pipelines and sophisticated research analyses. You will work with the wider group to maintain and develop the existing informatic and data infrastructure. You will also have the opportunity to lead on specific research projects befitting your interests and expertise, leveraging these incredibly rich and powerful datasets, as an integral part of the analytical team of post-docs and students working on these studies. The Hurles group at the Sanger Institute includes experimental human geneticists as well as bioinformaticians and statistical geneticists.
As detailed in the job description, of particular note are strong skills and experience in UNIX/LINUX and scripting languages (e.g. Perl, Python) and expertise in bioinformatics.
- Experience in genetics research, bioinformatics or a related field
- Advanced degree (MSc or PhD) in a quantitative field (e.g. computer science, bioinformatics, etc) or equivalent experience
- Experience with developing and managing analytical pipelines
- Strong UNIX/LINUX/systems skills
- Experience programming in scripting languages (e.g. Perl, Python)
- Excellent communication skills, including written and spoken English and ability to understand and implement workflow specifications
- Ability to work independently and as part of a larger team
- Excellent attention to detail and problem solving skills
- Effective interpersonal skills and the ability to work with the team and with collaborators
- Efficient time management
- Demonstrates inclusivity and respect for all
Please apply with your CV and a cover letter outlining your suitability for the role addressing the criteria set out above and in the job description.