Genome Analyst x 2 roles - Diagnostic Discovery (we have office locations in Cambridge, Leeds & London)

Company Description

Have you got the right qualifications and skills for this job Find out below, and hit apply to be considered.

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.

We are hiring two Genome Analysts to support the Diagnostic Discovery initiative here at Genomics England.

Diagnostic Discovery is focused on ensuring participants benefit from the latest advances in genomic science and technology. This is achieved through innovative, ongoing analysis of whole genome sequencing (WGS) data, with the aim of increasing diagnostic yield for individuals enrolled in Genomics England\’s research programmes.

These are exceptional opportunities to work at the intersection of research and clinical practice, with a strong focus on variant interpretation and genomic data analysis within a collaborative, multidisciplinary team.

We are particularly interested in individuals with experience at the clinical-research interface who are passionate about advancing diagnostic insights for patients with rare conditions who currently remain undiagnosed.

Job Description

Everyday responsibilities include:

Reviewing variants identified through research analysis of Genomics England data to support Diagnostic Discovery.
Assessing gene/variant associations with rare disorders to guide Diagnostic Discovery analyses.
Designing and performing customized analyses of the Genomics England data.
Critically assessing outputs of internally developed analyses to bring about improvements.
Support the review of rare disorder research findings identified through the Genomics England Research Network members and Discovery Forum.

Qualifications

MSc/PhD in relevant discipline preferred.

Skills & experience for success

Ideally, you’ll have:

Experience in a role where you undertake whole genome or exome sequencing analyses and interpretation of the genomic data in relation to rare disorders – this could be in a clinical or a research setting.
An understanding and focus on the clinical impact of these analyses.
Detailed knowledge of human genomics, in particular rare disorders.

Additional Information

Please note that this role is not primarily a bioinformatics role. Please provide a clear description of your experience with scientific analysis and interpretation of genomic data and variants, particularly in the context of rare conditions.

Closing date for applications: Friday 22nd August 2025 at 23:59

Salary from: £47,500

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.Equal opportunities and our commitment to a diverse and inclusive workplace

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