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

• Benchmarking tools for quality control, processing and analysis of whole genome sequence data, e.g., alignment, variant callers for variants of different size ranges
• Performing custom computational analysis for a range of projects in rare disease/germline samples
• Developing and prototyping new features for rare disease/germline genome analysis in collaboration with internal and potentially external stakeholders
• Collaborating with software developers responsible for converting prototypes to production pipelines
• Establishing general bioinformatics resources for day-to-day use by colleagues

REQUIREMENTS

• MSc or PhD with experience of working within Rare Diseases or Bioinformatics/Computational Biology and Systems Biology or equivalent work experience
• Good knowledge in one or more areas of human DNA analysis, such as rare disease genomics, family based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
• Good knowledge of statistics and/or machine learning, and ideally some quantitative background (e.g. physics, computer science, or maths). These skills could also have been developed, for example, through a PhD in computational biology, statistical genomics, or statistical genetics.
• Practical knowledge of high throughput sequencing algorithms and available resources. Experience with full cycle of analysing NGS data from sequencing QC to annotation and prioritization of variants.
• 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
• 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