Bioinformatics Developer

About this position

Genomic sequencing in the clinical setting is becoming routine, but it produces large numbers of variants which require efficient annotation and filtering to understand potential disease mechanisms and improve diagnoses. We seek a bioinformatician to work on tools to help improve the speed, accuracy, sensitivity, precision and information content of clinical reporting from genomic sequence information.

The new position will involve working with the existing members of the Variation Annotation team and interacting with clinical research scientists and curators to extend and improve existing tools. The team of bioinformaticians/developers deliver robust and reliable resources for consistent variant annotation. We are responsible for the variation resources in the Ensembl project and develop tools for data access, visualisation and variant interpretation, including the Ensembl Variant Effect Predictor (VEP). As part of our contribution to the Transforming Genomic Medicine Initiative (TGMI), we have developed Gene2Phenotype (G2P), a system to capture and distribute manually curated gene-to-phenotype or disease associations in a standardised, structured format. G2P data can be used with an Ensembl VEP extension to filter results from genome and exome sequencing studies and more rapidly filter results to identify potentially causative genotypes.

Your role

We seek  a talented and highly motivated bioinformatician/developer to contribute to our TGMI variant annotation and curation tools.

Responsibilities may include:

• Development of back-end curation systems to handle new data types
• Development of the G2P website to add new features and enhance usability
• Providing user support to curators using the system
• Creating methods to annotate or check curated data
• The implementation of new analysis options in Ensembl VEP
• The preparation and presentation of reports on data held and the analysis options available

You have

• High proficiency working in a UNIX/Linux environment
• Proficiency in at least one programming language
• Familiarity with the use of relational database systems
• Experience of working with genetic variation data or strong interest to learn
• Capability of working to deadlines while delivering a high-quality product
• Excellent communication, interpersonal and English language skills

You might also have

• Experience of the design and development of user-friendly tools and APIs
• An efficient and professional user-focused approach to service provision
• Experience of managing genomics data
• Experience of web design and development
• Familiarity with Perl and MySQL

Why join us

EMBL-EBI is a worldwide leader in bioinformatics. We encourage personal and professional development and are committed to ensuring our employees feel valued, supported and empowered to reach their potential at work.

Surrounded by beautiful South Cambridgeshire countryside, our state-of-the-art Campus provides employees with a relaxed atmosphere where the pursuit of scientific discovery and meaningful work, underpin every role. In addition, our employees have access to a wide range of benefits including:

• 30 days annual leave per year plus 8 bank holidays
• Flexible work arrangements
• Unique pension scheme including 17% employer contribution
• Annual salary review
• Private medical insurance for you and your immediate family (including all prescriptions and generous dental & optical cover)
• Death benefit, long-term care, accident at work and unemployment insurances
• Relocation package including installation grant (if required)
• On-site library and subsidised on-site gym and cafeteria
• Casual dress code
• Free shuttle bus to and from Campus
• Extensive sports and social club activities (run on campus and remotely)
• Family benefits: Onsite nursery, child sick leave, generous parental leave, holiday clubs on campus and monthly family and child allowances
• Benefits for non-UK residents:Visa exemption, education grant for private schooling, financial support to travel back to your home country every second year and a monthly non-resident allowance

What else you need to know

To apply please submit a covering letter and CV through our online system. 

This position is project limited and due to end in March 2022.

At EMBL-EBI, we strongly believe that inclusive and diverse teams benefit from higher levels of innovation and creative thought. We encourage applications from women, LGBTQ and individuals from all nationalities. Visa exemptions will be offered to international candidates and details will be discussed during interview. We believe in science without borders and this continues after Brexit.

This role is based in Hinxton, UK and you will be required to relocate once it is safe to do so if you are currently based abroad. More info on how we are recruiting in this period is available on our page: Recruitment and Onboarding during Covid19.