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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.
We seek a talented and highly motivated bioinformatician/developer to contribute to our TGMI variant annotation and curation tools.
Responsibilities may include:
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:
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.
For questions or issues with the application process, please contact recruitment@ebi.ac.uk.
We offer attractive conditions and benefits to attract and retain the brightest talent. Learn more.
The European Molecular Biology Laboratory is a single organisation spread across six European sites. Each site hosts its own research units, services, and facilities.
EMBL seeks to better understand the molecular basis of life. In the process, we’re changing European science.