5 months ago
Working closely with other Curators, Clinical Geneticists and Bioinformaticians within the organisation to deliver curation requirements to deadlines, and interact with experts across the UK and internationally to gain review of genes or genetic variants.
Their work will contribute to the genome interpretation pipeline and aid the reporting of diagnoses or clinically actionable information for patients as part of this team effort.
*Contributing to the Curation Team effort and supporting the needs of the Bioinformatics Team.
*Delivery of assigned curation requirements within deadlines.
*Interaction with experts in the assigned disease field for review of genes or variants in a professional manner.
*BSc or higher in genetics, biological sciences or equivalent, and an in-depth understanding of genetic variation and genomics.
*Solid curation experience, with a strong background in genetics and human disease.
*Ability to efficiently query databases and carry out data comparisons.
*Exposure to mapping genetic variants to reference sequences and standardised variant nomenclature.
*Experience extracting, interpreting and annotating published scientific papers.
*Able to use standardised terms and ontologies for variants, genes, phenotypes.
*Proven ability to utilise databases, adding information to databases and use of curation tools.
*Experience of using genetic and disease-based databases.
*Ability to prepare reports and publications.
*Strong written and oral English communication skills.
*Good computer skills, including word processing and spreadsheet applications.
Ability to understand scientific literature, experimental procedures, current genomics projects.
*Attention to detail.
*Ability to communicate effectively within a multidisciplinary team.
*Flexible and co-operative approach to colleagues.
A demonstrable ability to cope under pressure and deliver to deadlines.
*Ability to write code to query databases and carry out data comparisons.
*Background in cancer and/or human rare diseases.
*Knowledge of pharmacogenomics.
*Clinical genetics background.
Experience in the curation of scientific knowledge for the interpretation of human genomes.