Paramount are working in partnership with Genomics England to expand their team in order to deliver success with the 100,000 Genomes Project. This is a challenging and fast moving project with the aim to carry out whole genome sequencing on 100,000 participants. Genomics England works with key partners to collect, transport, store, quality check and sequence the samples from participants. The aim for this project is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments.
The post holder’s primary role is the curation of genetic variants from databases, submitted expert lists and the literature, the assessment of evidence for genes involved in rare diseases and cancer and the evaluation of clinically-actionable information.
They will work closely with other Curators, Clinical Geneticists and Bioinformaticians within Genomics England to deliver curation requirements to deadlines, and interact with experts across the UK and internationally to gain review of genes or genetic variants.
Ultimately, their work will contribute to the Genomics England 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.
*Support the promotion, development, updates and data curation of PanelApp (https://panelapp.genomicsengland.co.uk).
*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.
There are some great benefits on offer with this role including a competitive salary, pension, generous holidays and more.
Please do not hesitate to contact Harvey Uppal at email@example.com or call (+44) 121 616 3407 to discuss this opportunity further.
Keywords: Scientific, Curator, Clinical, Geneticist, Bioinformatics, Genomics, Database, Variants, Annotating, Cambridge, London.
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Job Reference: SCGEL_1526910375
Broadcast As: 18372
Salary To: Negotiable
Job Type: Full Time
Job Term: Permanent
Job Specialism: Clinical Research
Recruitment Consultant: Harvey Uppal