Rare Disease Analyst

Genomics England applies state of the art approaches to whole genome sequences for processing, analysis, quality assurance and annotation. This includes integrating phenotypic and other clinical data with whole genome sequencing to create a world-leading, high fidelity data repository for the NHS and third party users.

The Bioinformatics team develops and applies state of the art approaches to whole genome sequences (WGS) in the areas of:

=       Analysis of WGS in cancer and rare diseases

=       Sequence alignment and variant calling of up to 100 genomes per day

=       Quality assurance and sample provenance monitoring

 

This analyst role is part of a highly motivated Bioinformatics team, working as part of a small team responsible for rare disease analysis. Please view the job profile here.

To apply please send your application to Harvey Uppal at Paramount Recruitment on huppal@pararecruit.com.