DefiniGEN Bioinformatician/Genome analyst - Definigen

Bioinformatician/Genome analyst

Salary: Dependant on Experience plus benefits

Location: Babraham Research Campus, Cambridge, UK

Type: Permanent, Full time Start: Immediate

Closing date: 31st March 2021

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

  • Establish a new business function within DefiniGEN exploiting genomic data to accelerate drug development (E)
  • Development of back-end curation systems to handle new data types (E)
  • Providing user support to curators or end users using the system (E)
  • Creating methods to annotate or check curated data (E)
  • The implementation of new analysis tools (E)
  • The preparation and presentation of reports on data held and the analysis options available (E)
  • High proficiency working in a UNIX/Linux environment (E)
  • Proficiency in at least one relevant programming language e.g. Python (E)
  • Familiarity with the use of relational database systems (E)
  • Experience of working with genetic variation data (E)
  • Capability of working to deadlines while delivering a high-quality product (D)
  • Excellent communication, interpersonal and English language skills (D)
  • Experience of the design and development of user-friendly tools and APIs (D)
  • 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)
  • Experience of managing genomics data (D)
  • Familiarity with Perl and MySQL (D)


E - Essential, D - Desirable

This is an excellent opportunity for someone interested 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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