Company Description

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.

Job Description

We’re looking for a Genomic Data Scientist to join our Bioinformatics Research Services team based on a 12-month fixed-term contract.

You’ll play a key part in genome analysis and interpretation projects, working with Genomics England datasets to support research and innovation. You’ll also help generate and benchmark data in collaboration with internal teams and external partners. As a superuser of our datasets and research environment, you’ll deploy and refine computational tools to drive impactful insights and contribute to high-quality reports and documentation.

Everyday responsibilities include:

Running alignment and variant calling pipelines for complex regions (e.g., MHC, PGx).
Performing custom computational analyses on whole genome sequencing and other omics datasets (e.g., GWAS, rare variant aggregate testing).
Preparing data for analysis by applying quality control, functional annotation, and dataset harmonisation.
Benchmarking and enhancing tools for whole genome sequencing and other genomic data types.
Researching scientific literature, identifying new approaches to genome analysis, as well as contributing to the publication and dissemination of our learnings in the form of scientific papers, white papers and conferences.
Providing support to internal teams and external researchers, ensuring they have the best tools and knowledge to maximise their impact.Skills and experience for success:

We’re looking for someone with a strong background in human genetics and bioinformatics, as well as a collaborative and problem-solving mindset. You’ll thrive in this role if you have:

Programming experience in R and Python, with a solid understanding of statistical genetics.
Hands-on experience working with next-generation sequencing data in human genetics.
A strong background in disease genetics (rare or complex), with relevant industry or academic experience.
Expertise in at least one area of human germline DNA analysis, such as genetic association testing, population genetics, pharmacogenomics, or structural variation analysis.
Experience working in cloud computing environments and running bioinformatics pipelines (Nextflow, Docker, etc.).
Proven ability to communicate with stakeholders from diverse backgrounds (e.g. management, IT, R&D, biology, bioinformatics) and a clear understanding of clinical and phenotypic data management and the sensitivities surrounding patient cohort data.
Excellent interpersonal skills, keeping track of customer relationships, providing high calibre troubleshooting, identifying customer needs and suggesting solutions to improve material or analytical approaches.

Qualifications

A PhD in a relevant field (e.g., Rare Diseases, Cancer Bioinformatics, Computational Biology, Systems Biology, or Statistical Genetics) OR equivalent work experience in industry.

Additional Information

Salary from £55,000

Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we’re continually improving our benefits package. We pride ourselves on investing in our people and supporting them to achieve their career goals, as well as offering a benefits package including: 

Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and the option to apply for up to 30 days of remote working abroad annually (approval required).
Family-Friendly: Blended working arrangements, flexible working, enhanced maternity, paternity and shared parental leave benefits.
Pension & Financial: Defined contribution pension (Genomics England double-matches up to 10%, however you can contribute more if you wish), Life Assurance (3x salary), and a Give As You Earn scheme.
Learning & Development: Individual learning budgets, support for training and certifications, and reimbursement for one annual professional subscription (approval required).
Recognition & Rewards: Employee recognition programme and referral scheme.
Health & Wellbeing: Subsidised gym membership, a free Headspace account, and access to an Employee Assistance Programme, eye tests, flu jabs.Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background.

Genomics England’s policies of non-discrimination and equity and will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part-time or employed under a permanent or a fixed-term contract or any other relevant factor. 

Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour is contrary to