BACKGROUND

• Analysis of WGS in cancer and rare diseases 

• Automated high throughput processing and variant classification
• 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 analysis for a range of projects
• Developing and prototyping new features for 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 (or equivalent experience) in Bioinformatics or relevant subject or equivalent work experience
• Expertise in one or more areas of human DNA analysis, such as rare disease genomics, family based analysis, genetic association testing, common disease genomics / risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
• Relevant professional experience, e.g. postdoctoral
• Substantial hands-on experience analysing exome or whole genome sequencing data
• Familiar with Unix and use of high performance computing clusters
• Proficient in using R and/or Python to manipulate, visualise and analyse data and achieve tasks programmatically
• Familiar with software version control
• A demonstrable ability to balance competing demands and deliver to deadlines
• Ability to communicate effectively within a multidisciplinary team
• Flexible and co-operative approach to colleagues
• Ability to work well both independently and as part of a team
• Practical knowledge of statistics and/or machine learning
• Strong programming skills

COMPENSATION

HOW TO APPLY