BACKGROUND

RESPONSIBILITIES

• Carrying out alignment and variant calling, family based analyses and burden and association testing
• Benchmarking genome analysis pipelines
• Performing computational analyses for a range of projects
• Monitoring quality of WGS data
• Establishing general bioinformatics resources for day-to-day use by colleagues

PREFERENCES

• PhD (or equivalent experience) in Bioinformatics, Statistical Genetics, Population Genetics, Systems Biology or a related discipline
• Ideally some post-doctoral experience of working with Rare Diseases or menedelian genetics
• Strong understanding of inherited disease and human genetics
• Solid knowledge of family based analysis and knowledge of association testing
• Practical knowledge and understanding of statistics
• Experience with full cycle of analysing NGS data from sequencing QC to annotation and prioritization of variants
• Experience with handling large data sets and setting pipelines
• Strong programming skills (Python, R); ability to develop codes as a part of team
• Excellent technical writing skills
• A demonstrable ability to cope under pressure and deliver to deadlines
• Great communication skills, with a flexible and co-operative approach to colleagues
• Ability to work independently and to show initiative within a team
• Ability to prioritise and balance competing demands

COMPENSATION

HOW TO APPLY