Hybrid Bioinformatics Developer for DECIPHER Genomics Tools

1000 European Molecular Biology Laboratory

Hinxton

Hybrid

GBP 39,000 - 43,000

Full time

12 days ago
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Benefits offered by this job

Relocation package
Monthly allowances (family, child, non
Pension scheme
Private medical insurance

Job summary

EMBL-EBI's DECIPHER team seeks a Bioinformatics Developer to maintain and enhance a global data-sharing platform for rare disease discovery. You will work with two software developers and a project leader to make research data accessible for clinical use and collaborate with data producers and clinicians.

You will gain experience in clinical genomics and web development while contributing to genome data interpretation tools and patient benefit.

Qualifications

  • Bachelor's degree in biological, clinical or computational sciences.
  • Higher degree or equivalent experience in bioinformatics, software engineering or computational sciences.
  • Experience of bioinformatics standards, tools and resources, preferably those relevant to variant annotation.
  • Experience of creating methods to manage and process genomics data.
  • Experience designing and utilizing large-scale relational databases, preferably PostgreSQL.
  • Proficiency in a language used for data manipulation and analysis such as R and Python.
  • Familiarity with software development in JavaScript (Node.js or browser-based).
  • Proficiency working in a UNIX/Linux environment.
  • Excellent attention to detail and the ability to deliver a high-quality product to agreed deadlines.

Responsibilities

  • Investigating, assessing and integrating molecular biology and phenotypic data in varying formats from public resources.
  • Deploying bioinformatics tools in the DECIPHER environment and analysing genomic data.
  • Designing, testing, implementing data structures and user interfaces to represent information relating to the human genome and genetic disorders.
  • Supporting DECIPHER users by responding to bug reports and requests for support or new features.
  • Working with stakeholders to understand and translate their requirements into feature specifications.
  • Performing ad hoc analyses to investigate potential data issues and support decision making.
  • Liaising with other groups at EMBL-EBI and external collaborators to understand the resources they have created and how they could integrate with DECIPHER.
  • Bringing bioinformatics expertise to the DECIPHER team and representing the DECIPHER project at internal and external meetings.

Skills

R
Python
JavaScript
UNIX/Linux
Communication
Teamwork
Bioinformatics concepts
Data manipulation

Education

Bachelor's degree in biological, clinical or computational sciences
Higher degree or equivalent experience in bioinformatics, software engineering or computational sciences

Tools

PostgreSQL
Vue/React/Angular
VEP (Ensembl Variant Effect Predictor)
Web development

Job description

EMBL-EBI's DECIPHER team seeks a Bioinformatics Developer to maintain and enhance a global data-sharing platform for rare disease discovery. You will work with two software developers and a project leader to make research data accessible for clinical use and collaborate with data producers and clinicians.

You will gain experience in clinical genomics and web development while contributing to genome data interpretation tools and patient benefit.

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