BACKGROUND

• Analysis of WGS in cancer and rare diseases 

• Sequence alignment and variant calling of up to 100 genomes per day
• Quality assurance and sample provenance monitoring

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
• Developing and implementing new features
• Establishing general bioinformatics resources for day-to-day use by colleagues

REQUIREMENTS

• Postdoc with experience of working within Rare Diseases and Bioinformatics/Computational Biology and Systems Biology or equivalent work experience
• Good knowledge of rare disease genomics
• Have solid training in statistics and or machine learning, and ideally some quantitative background such as a degree in physics, computer science, and maths. These skills could have been developed during a PhD for example through a PhD in computational biology, statistical genomics, and statistical genetics.
• Practical knowledge of NGS algorithms and available resources
• Solid skillset in Bioinformatics and experience of working as a computational biologist
• Solid knowledge of family based analysis and knowledge of association testing
• Strong programming skills (Python, R); ability to develop codes as a part of team
• Practical knowledge and understanding of statistics
• Excellent technical writing skills
• A demonstrable ability to cope under pressure and deliver to deadlines
• Ability to communicate effectively within a multidisciplinary team
• 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