Company Description
Genomics England is a global leader in enabling genomic medicine and research, focused on creating a world where everyone benefits from genomic healthcare. Building on the 100,000 Genomes Project, we support the NHS’s world-first national whole genome sequencing service and run the growing National Genomic Research Library, alongside delivering numerous major genomics initiatives. By connecting research and clinical care at national scale, we enable immediate healthcare benefits and advances for the future.
Our mission is to provide the evidence and digital systems so that by 2035 genomics could play a role in up to half of all healthcare interactions, whilst securing the UK’s position as the best place to discover, prove and benefit from genomic innovations.
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.
Behind the Healthcare and Research outcomes, Genomics England delivers through designing, developing and operating complex healthcare software systems.
We're on the cusp of big changes with the real prospect of genomics becoming the fabric of everyday healthcare through the lifetime – from birth to old age.
Job Description
We are seeking a Scientific Curator to contribute to the development of gene panels used in whole genome sequencing variant prioritsation pipelines for rare and inherited disease and cancer.
Our Scientific Curators deliver curation needs 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 scientific papers and gene-disease resources e.g OMIM database, to contribute to our knowledgebases, providing high quality, up-to-date data to bioinformatics pipelines for use in the analysis of patient data.
The role is based on a 12 month fixed term contract.
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:
Knowledge of human genome analysis and whole genome sequencing analysis pipelines.
Experience using resources relevant to the curation of human gene-disease and variant-disease associations e.g. OMIM, gnomAD.
Knowledge of variant classification processes used in rare disease diagnoses.
Strong attention to detail ensuring accuracy in curation of information.
Some experience in using scripts to query APIs or data processing, preferably in Python.
Strong communication skills, with the ability to write succinct summaries of complex information, high-quality user documentation and the ability to present information to a variety of audiences.
Good evidence of organisational skills including a demonstrated ability to plan, prioritise and manage multiple independent projects.
A self-starter with an empathetic and teamwork-oriented mindset. 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.
Experience of working in an Agile environment that embraces adaptability and a culture of collaboration and continuous improvement.
Experience using ticketing software such as Jira for task management.
Experience using Artificial Intelligence tools for information summarization and an appreciation of the benefits and limitations of their use.
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: £47,700
Closing date for applications - Friday 1st May
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 undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Our People policies outline our commitment to inclusivity.
We aim to remove barriers in our recruitment processes and to be flexible with our interview processes. Should you require any adjustments that may help you to fully participate in the recruitment process, we encourage you to discuss this with us.
Culture
We have four key behaviours that represent what we would like Genomics England to feel like and the culture we want to encourage, in order for us to achieve our mission. These behaviours help us all work well together, deliver on our outcomes, celebrate our successes and share feedback with each other. You can read about these and other aspects of our culture here
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