Details:
- Salary: £47,500 - Annum
- Job Type: Contract
- Job Status: Full-Time
- Salary Per: Annum
- Location: Canary Wharf
- Date: 2 weeks ago
Description:
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 are seeking a Scientific Curator based on a 1 year fixed term contract.
Our Scientific Curators deliver curation requirements to deadlines and interact with experts across the UK and internationally to use evidence to assess the role of genes and genetic variants within disease.
Through collaborations you will extract, interpretate and annotate crucial information from genomic resources and scientific papers.
Everyday responsibilities include:
Work within the Biocuration chapter providing curation services across multiple projects, including the Generation Study (https://(url removed)/initiatives/newborns) within Genomics England.
Providing actionable content, assessing evidence for gene-disease associations and variant-disease associations to be used across rare disease and cancer programs.
Generating test sets and analysing test set results to validate genome analysis services.
Interaction with experts in the assigned disease field for review of genes and/or variants.
Delivery of assigned curation requirements within agreed deadlines.
Support the promotion, development, updates and data curation of current Genomics England programs. Skills and Experience for Success
We anticipate the ideal candidate will have:
Experience with resources relevant to the curation of human gene-disease and variant-disease associations.
Knowledge of standardised disease and genomic terms and ontologies for variants, genes, and phenotypes.
Knowledge of recognised variant classification processes used in rare disease diagnosis.
Self-sufficient and detail orientated.
Able to work in a team with members of different skills sets and roles
Able to write high quality documentation tailored to end users
Desirable:
Biocuration experience in variant or gene classification in rare disease diagnosis demonstrated by either previous employment, MSc or PhD program or through your publication record.
Scripting ability in Python/R.
Experience using ontologies.
Knowledge of whole genome sequencing analysis pipelines.
Qualifications
MSc or PhD in a relevant topi
Additional Information
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:
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 arrangementsTalk 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 , 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