Scientific Curator - 12 Month FTC (we have office locations in Cambridge, Leeds & London)

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.