Scientific Curator ( we have office locations in Cambridge, Leeds & London)

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 uptodate data to bioinformatics pipelines for use in the analysis of patient data.  In addition you will help the team automate some of the curation process.  This may include writing scripts to extract data from APIs extracting and reformatting tabulated data and working with AI tools to explore future curation workflows and find improvements. 

Everyday responsibilities include:  

• Working within the Biocuration chapter provide actionable content assessing evidence for genedisease associations and variantdisease 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 Englands programs including the automation of tasks. 

Skills and Experience for Success:

• Proven experience working with genome analysis methods for the diagnosis of human disease. 
• Experience using resources relevant to the curation of human genedisease and variantdisease 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 to write succinct summaries of complex information and highquality 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 selfstarter with an empathetic and teamworkoriented mindset. 
• Proven experience in using scripts to automate processes transform data and query APIs 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 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: 47500

Being an integral part of such a meaningful mission is extremely rewarding in itself but in order to support our people were 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).
• FamilyFriendly: Blended working arrangements flexible working enhanced maternity paternity and shared parental leave benefits.
• Pension & Financial: Defined contribution pension (Genomics England doublematches 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 Englands policies of nondiscrimination 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 parttime or employed under a permanent or a fixedterm 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 toour virtues 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. 

Blended working model

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

Onboarding background checks

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.