Senior Genome Analyst - Diagnostic Discovery (we have office locations in Cambridge, Leeds and London)

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 seeking a Senior Genome Analyst to join the Diagnostic Discovery team, focusing on the interpretation of genomic variants and data to identify potential new diagnoses for families with rare conditions. In this role, you will analyse and interpret data, including complex variants and in challenging scenarios, support continuous improvement of Diagnostic Discovery analyses, and mentor colleagues in genomics and variant interpretation. You will also contribute to effective communication and knowledge sharing related to the Diagnostic Discovery.

Everyday responsibilities include:

• Reviewing gene/variant associations and variants identified through analysis of Genomics England data to support Diagnostic Discovery, including complex variants and analyses.
• Support the review of complex queries in the Genomics England Healthcare Service and research findings identified through the National Genomic Research Library.
• Critically assessing outputs of internally developed analyses to bring about improvements.
• Designing and performing customized analyses of the Genomics England data.
• Utilise scientific literature and collaborations to bring enhancements and new opportunities to Diagnostic Discovery.
• Contribute to the dissemination of Diagnostic Discovery activities in the form of documentation, presentations and publications.
• Coach and mentor team members, including training and coordination of work within the Diagnostic Discovery team.

Skills & experience for success:

• In-depth understanding of human genomics and rare disease genetics.
• Proficiency in analysing and interpreting genomic data, including whole genome sequencing (WGS) data.
• Ability to assess clinical significance across a range of variant types.
• Skilled in using scientific literature and databases to identify clinically relevant variants.
• Mentoring and coaching skills to support team development in genomics and data interpretation.
• Collaborative problem-solving and data-driven decision-making.
• Innovative thinking with the ability to design and implement new approaches.
• Strong communication skills for translating complex scientific information to diverse audiences.

Qualifications: MSc/PhD in relevant discipline preferred.

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: Monday 24th November.

Salary from: £52,700

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 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.