Reference Data Bioinformatician

£35,000 - £40,000 DOE
15 Feb 2017
15 Mar 2017
Contract Type
Full Time
Congenica has an exciting opportunity for a Reference Data Bioinformatician to join the team based in Hinxton, Cambridge. You will be on a full time permanent contract with a competitive salary of between £35,000 - £40,000 depending on skills and experience.

Congenica is a world leading developer of genome-based discovery and diagnostic technologies, providing our Sapientia clinical decision software platform to UK NHS Regional Genetics Services and clinical, research and commercial customers nationally and internationally. We are also a clinical interpretation partner for the UK100K Genomes Project working with Genomics England. Congenica's main office is located at the Wellcome Genome Campus, with the Sanger Institute and the EBI. The entire Campus covers an area of 125 acres and provides those working here with a beautiful environment to enjoy.

Determination of the clinical relevance of a mutation relies heavily on existing knowledge. This makes the reference data presented in our clinical decision support tool, Sapientia, critical to achieving a successful molecular diagnosis. We now require a dedicated individual to oversee the maintenance of our existing reference data sets to ensure they are up to date and accurately represented. This will include devising automated processes to incorporate full datasets or curation of databases to extract relevant information. Control of these datasets is a critical aspect of an accredited system so an ordered systematic approach is essential. It also expected that investigation and integration of new resources to be an important development of the position.

Main Responsibilities of our Reference Data Bioinformatician

- Excellent knowledge of databases, tools and resources for clinical bioinformatics, including but not limited to Ensembl, HGMD and locus specific databases

- Excellent knowledge of ontologies, particularly those concerned with human and clinical utility.

- Ability to write code to robustly automate tasks and develop analytical pipelines.

- Organized, systematic approach to support an accredited work process.

- Good attention to detail.

- Excellent time management and planning to fit with agreed release schedule.

- Proactive approach to improving datasets in Sapientia.

Essential skills required to become our Reference Data Bioinformatician

- Degree in Computer Science or Life Sciences preferably human/clinical relevance

- Excellent knowledge of bioinformatics tools including ontologies and other resources

- Excellent knowledge of Human Reference databases, including but not limited to Ensembl, HGMD and locus specific database

- Ability to write code to automate routine tasks and develop analytical pipelines.

Benefits of becoming our Reference Data Bioinformatician

- 25 days of annual holiday

- Pension through Royal London with 6% company match

- Private healthcare coverage through AXA PPP, with the ability to add family members. The company pays the annual premium for the employee, but the employee is responsible for the full cost additional family members

- Income protection benefits (if employee is unable to work for 13 weeks, he/she will receive 75% of salary for up to 2 years)

- Life insurance at 4 times salary (lump sum payment)

- Subsidised gym membership on site at the Sanger Institute

- Free parking

- Flexible working schedule potential (some ability to work from home as needed)

- Cycle to Work Scheme

Shortlisting to begin week commencing 06/03/17.

If you feel you are the right candidate for the role as our Reference Data Bioinformatician then please click 'apply' now! We'd love to hear from you!