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 permanent contract.
Our Scientific Curators deliver curation requirements for projects across Genomics England to deadlines and, where necessary, interact with experts across the UK and internationally to gather evidence to assess the role of genes and genetic variants within human disease.
You will extract, interpret and annotate information from genomic resources and scientific papers to contribute to our knowledgebases, providing high quality, up-to-date data to bioinformatics pipelines for use in the analysis of patient data.
Everyday responsibilities include:
Working within the Biocuration chapter, provide actionable content, assessing evidence for gene-disease associations and variant-disease associations to be used across rare disease, cancer and newborn screening programs.
Engage with disease experts for review of genes and/or variants where required.
Deliver assigned curation requirements within agreed deadlines.
Work with broader team members to deliver updates to gene panels while ensuring clinical safety in accordance with Genomics England accreditation requirements.
Actively contribute to the development and improvement of data curation in Genomics England’s programs. Skills and experience for success:
Experience using 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 and the reasons for using them.
Knowledge of variant classification processes used in rare disease diagnosis.
Strong communication skills, with the ability engage with a variety of stakeholders, to write succinct summaries of complex information and write high-quality user documentation.
Strong attention to detail ensuring accuracy in curation of information.
Demonstrated ability to prioritise and manage multiple independent projects in a dynamic environment.
A self-starter with an empathetic and teamwork-oriented mindset.
An interest in coding and some experience in using scripts to query APIs or data processing, preferably in Python. Desirable:
Biocuration experience particularly in assessing and summarising evidence for variant or gene.
Classification in rare disease diagnosis demonstrated by either previous employment, MSc or PhD program.
Knowledge of whole genome sequencing analysis pipelines.
Experience of automating repetitive tasks to reduce manual effort and increase productivity.
Experience of working in an Agile environment that embraces adaptability and a culture of collaboration and continuous improvement.
Qualifications
Minimum of a Masters in a relevant subject, with experience in genome analysis or equivalent practical experience in an industry setting.
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:
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
