Bioinformatics Developer: Rare-Disease Genomics Platform

CamWebDir; Cambridge; Hybrid; GBP 41,000 - 52,000; Full time

Benefits offered by this job

Hybrid working

Wellcome Genome Campus location

Generous benefits

Job summary

EMBL-EBI in Cambridge is seeking a Bioinformatics Developer to join the DECIPHER team and help maintain and develop the DECIPHER platform used for rare disease discovery and data sharing.

You will work with two software developers, a support specialist and the project leader to apply bioinformatics to assess resources, integrate data, and build tools for genomic medicine, with hybrid working and an on-site team day.

Qualifications

• Bachelors or equivalent in biological, clinical or computational sciences.
• Higher degree or equivalent experience in bioinformatics, software engineering or computational sciences.
• Experience with bioinformatics standards, tools and resources, preferably variant annotation.
• Experience designing and using large-scale relational databases, preferably PostgreSQL.

Responsibilities

• Investigating, assessing and integrating molecular biology and phenotypic data from public resources.
• Deploying bioinformatics tools in the DECIPHER environment and analysing genomic data.
• Designing, testing, and implementing data structures and user interfaces for the human genome and genetic disorders.
• Supporting DECIPHER users by responding to bug reports and requests for support or new features.
• Liaising with EMBL-EBI groups and external collaborators to understand resources and integration options.
• Translating stakeholder requirements into feature specifications.

Skills

Python

R

Unix/Linux

PostgreSQL

Data integration

JavaScript

Bioinformatics

Education

Bachelor's degree in biological, clinical or computational sciences

Higher degree in bioinformatics or computational sciences

Tools

Ensembl VEP

PostgreSQL

Job description

EMBL-EBI in Cambridge is seeking a Bioinformatics Developer to join the DECIPHER team and help maintain and develop the DECIPHER platform used for rare disease discovery and data sharing.

You will work with two software developers, a support specialist and the project leader to apply bioinformatics to assess resources, integrate data, and build tools for genomic medicine, with hybrid working and an on-site team day.