BACKGROUND

RESPONSIBILITIES

• 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
• Support the promotion, development, updates and data curation of PanelApp (https://panelapp.genomicsengland.co.uk).

REQUIREMENTS

• 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

PREFERENCES

• 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.

COMPENSATION

HOW TO APPLY