Main purpose of the job
An exciting opportunity has arisen for three Research Fellows to work on genomics in the epilepsies as part of a translational genomics programme under the supervision of Professor Sanjay Sisodiya. The appointees will be part of a growing ground-breaking genomics programme, which will use a large genomic dataset with very detailed phenotypes in order to realise translation of personalised medicine for people with epilepsy.
The posts are based at the well-known Chalfont Centre for Epilepsy with translational research facilities and onsite laboratories. The main purpose of the posts is to advance understanding of the epilepsies through detailed clinical, investigational and genomic evaluation in a large cohort of people with well-characterised epilepsies. The post holders will be responsible for the statistical analysis and the scientific interpretation of data and will provide bioinformatics advice and support to other group members from different disciplines (and in return, will receive advice from other disciplines).
The post holders will carry out a range of activities, amongst which will be research on genomic, clinical and other data in epilepsy, provision of laboratory- based scientific support, and close collaboration in research projects aiming for clinical application across the group, and through collaborative external projects, such as with Genomics England Ltd 100,000 Genomes project) and other national and international initiatives. An important strand of the group’s research is to develop formal quantitative multimodal analyses, for example as used in recent work (https://www.biorxiv.org/content/10.1101/470518v1).
Duties and responsibilities:1. Main duties:
- Contribute to a range of projects within the group’s overall programme of work.
- To enter data into relevant databases, and prepare cohorts for in-house and external collaborative studies.
- Carry out data harmonization, processing and integration, analysis, presentation and interpretation of bioinformatic data.
- Analyse genomic datasets including: array CGH, genotypic, whole exome sequencing, whole genome sequencing, and possibly RNA sequencing, methylation and expression data.
- Maintaining high-quality standards for current algorithms for mapping, assembling and analysing, and ensuring accurate results, of assembly and bioinformatics pipelines.
- Provide support to the on-going upgrading of a scalable platform for storing and exchanging clinical and genetic data.
- Be responsible for the maintenance of novel bioinformatics algorithms and the existing code base, in order to address clinically relevant questions from WGS data.
- Evaluate new software packages for analysis, annotation and data interpretation, and establish new, state-of-the-art in-house analysis pipelines.
- Participate in organising and managing large datasets, including the organisation of
data storage and repository solutions that meet current publishing standards.
- Write up research findings for dissemination amongst the research team and broader international community.
- Teaching and R&D:
- Contributing to the department’s multidisciplinary research projects within the strategy.
- Preparing and analysing data for publications in high profile international journals, for dissemination of research and for presentation at scientific meetings in the UK and overseas, and meetings with external collaborators.
- Continuously review developments in projects and seek to acquire new knowledge and skills.
- Professional and Quality Assurance:
- Ensuring the highest standard of record keeping, maintaining accurate, complete, and up to date records.
- Ensuring confidentiality is maintained as applicable.
- Attending and contributing to Departmental, Institutional and other meetings as appropriate.
- Acting at all times in accordance with the highest professional standards, and ensuring that these are maintained in the delivery of all aspects of research.
- Adhering at all times to the policies, rules and regulations of the Department, Institute and UCL.
- The post holder will actively follow UCL policies including Equal Opportunities and Information Governance policies.
- The post holder has a responsibility to carry out their duties in a resource efficient way and actively support UCL’s Sustainability Strategy, policies and objectives within the remit of their role.
- The post holder will maintain an awareness and observation of Fire and Health & Safety Regulations.
- As duties and responsibilities change, the job description will be reviewed and amended in consultation with the post holder.
- The post holder will carry out any other duties as are within the scope, spirit and purpose of the job as requested by the line manager.