Genome Analyst - Diagnostic Discovery

We're recruiting the new role of Genome Analyst - Diagnostic Discovery, which will contribute to Diagnostic Discovery at Genomics England. Diagnostic Discovery aims to enable participants to benefit from ongoing improvements in genomic science and technology, by taking novel approaches for ongoing anaylsis of WGS data to increase the diagnostic yield for participants enrolled in Genomics England research programmes. This is a unique opportunity, with an emphasis on variant and data interpretation within a multidisciplinary team. This opportunity is suited to individuals with experience at the clinical-research interface who can contribute to improving Diagnostic Discovery analyses and finding answers for patients who have not yet received a diagnosis for their rare condition.

The day to day of this role will consist of:

• 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, Diversity and Inclusion is important to Genomics England. We want an organisation where you can bring your whole self and feel welcome and included in our mission and workplace. We use the answers to these questions completely anonymously to track and report on our progress in attracting and hiring a diverse workforce. Your answers to these questions are not visible to recruiters or hiring managers and are not used in the selection process.

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• 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, MSc/PhD in relevant discipline preferred
  
  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.

Salary from: £47,000

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:

• 30 days' holiday (plus bank holidays), with additional days for long service awards


• A generous pension scheme of up to 15% combined contribution


• Life Assurance (3 x salary)


• Individual learning budgets for every colleague, a Blinkist account and a wide variety of courses on our portal


• A wide variety of wellness benefits including Gympass, a Headspace account, free weekly Yoga classes


• Enhanced maternity & paternity benefits


• Blended working arrangements


Talk to our Talent Team and find out how a career with Genomics England will benefit you.

#LI-Hybrid

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 our virtues, undermines our mission and core values and diminishes the dignity, respect and integrity of all parties.

Genomics England operates a blended working model as we know our people appreciate the flexibility. We expect most people to come into the office 2 times each month as a minimum. However, this will vary according to role and will be agreed with your team leader. There is no expectation that staff will return to the office full time unless they want to, however, some of our roles require you to be on site full time e.g., lab teams, reception team.