- 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
- 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
- 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
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Genome Analyst - London, United Kingdom - Genomics England
Description
Job DescriptionWe'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:
Skills & Experience for Success
Ideally, you'll have:
MSc/PhD in relevant discipline preferred
Additional InformationSalary 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:
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.
Our teams and squads have, and will continue to, reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum. Our office locations are Canary Wharf, Cambridge and Leeds.
As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check. We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare.
