DefiniGEN Bioinformatician/Genome analyst

Bioinformatician/Genome analyst

Salary: Dependant on Experience plus benefits

Location: Babraham Research Campus, Cambridge, UK

Type: Permanent, Full time Start: Immediate

Position Summary

We have an exciting opportunity for a full-time Bioinformatician/Genome Analyst to join DefiniGEN a world-leading metabolic disease stem cell company located on the Babraham Research Campus, Cambridge, UK. DefiniGEN is focused on developing best-in-class liver and pancreatic disease cell models to accelerate the development of therapies for a range of rare orphan diseases as well as major global healthcare disorders such as non-alcoholic Fatty Liver disease and Type 2 diabetes. DefiniGEN applies gene editing and stem cell production techniques to develop advanced cell models to elucidate novel mechanisms of disease. This is realised through the study of fundamental mechanisms, enhanced by our exploitation of genetic and genomic data from well-characterised patient cohorts.

Working within multi-disciplinary biology teams the successful applicant will undertake and manage bioinformatic projects in metabolic disease genomics, mining novel biological company datasets which can accelerate drug development programs. In addition, the candidate will be expected to work collaboratively to provide analytical support for the wider company.

The successful applicant will have experience of using computational approaches to analyse diverse genomic datasets. They will apply this knowledge to data generated within DefiniGEN (e.g. whole-genome sequencing, RNA-seq and clinical information), to characterise the molecular changes underlying key metabolic diseases. This opportunity requires scripting ability, familiarity with short read sequence data quality control/analysis, and relevant statistics skills. You will use Ensembl project tools such as the Ensembl Variant Effect Predictor (VEP) in combination with proprietary data sets generated from the genetic analysis of complex iPSC (induced pluripotent stem cell) models from control WT and disease patients to identify and annotate disease model genomes. Additional duties will include providing ad hoc bioinformatics support and advice for researchers within the company and liaising with collaborators including world class universities, global pharma companies and dynamic biotech advanced therapy developers. Excellent organisational skills and the ability to work as part of a team, as well as independently, are also essential.

Key Roles and Responsibilities

  • Detect and characterise genomic variants in novel mutant cell lines (E)
  • Analyse and collate high throughput data from a range of techniques to profile cell lines (E)
  • Develop robust pipelines for automated data processing and analysis (E)
  • Generate automated reports to summarise key findings (E)
  • Providing user support on the operation of pipelines and the interpretation of results (E)
  • Assist in the tracking of samples and the management of large-scale data (E)
  • High proficiency working in a UNIX/Linux environment (E)
  • Proficiency in at least one relevant programming language (E)
  • A strong commitment to the generation of high quality validated results (E)
  • Experience and understanding of variant calling and annotation (E)
  • Experience with analysing other high throughput sequencing techniques (D)
  • Experience in the management of large data and metadata sets (D)
  • Experience in pipeline development (D)
  • Capability of working to deadlines while delivering a high-quality product (E)
  • Excellent communication, interpersonal and English language skills (E)
  • An ability to explain informatics and statistics concepts to non-specialists (E)
  • A good understanding of biological questions that surround disease modelling and drug discovery hypotheses (D).
  • An efficient and professional user-focused approach to service provision (D)

E - Essential, D - Desirable

This is an excellent opportunity for someone interested in being involved in establishing a new business function and driving the growth of the company division. In return you will be offered an excellent salary and benefits package. Applicants should apply by sending their cover letter and CV to:


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