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.
Job Description
We are seeking a Scientific Curator to contribute to the development of gene panels used in whole genome sequencing variant prioritisation 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.
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