Genomic Data Scientist

We are seeking a Genomic Data Scientist to join our Bioinformatics Consulting team to work on a range of genome analysis and interpretation projects with an emphasis in rare or complex disease, in collaboration with and on behalf of our external researchers and industrial partners. In this role, you will work as part of multidisciplinary teams to develop and execute cutting edge projects that leverage Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic discovery, and patient stratification. You will contribute to the scoping, implementation, and application of state-of-the-art approaches for analysis of genomic and other omics modalities, in both leading and supporting capacity. As an expert user of our datasets and research environment, you will develop and fine-tune tools and pipelines to perform custom computational analyses, generate new data and contribute to high quality reports and documentation. Everyday responsibilities include: Preparing data for downstream analysis, e.g. through quality control, functional annotation, aggregation, harmonisation across different datasets. Planning and supporting analyses to meet project objectives with internal teams and external stakeholders. Providing support to internal teams and collaborators and being the point of reference for genomic datasets and analytical approaches. Performing custom computational analyses on whole genome sequencing and other omics data, such as GWAS, aggregate variant testing, meta-analysis, differential abundance, fine-mapping and MR. Researching the scientific literature, identifying new approaches to processing and analysis of genomics and multi-omics data, benchmarking and improving tools. Contributing to the publication and dissemination of findings via scientific papers, white papers and conference presentations.

Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.