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BACKGROUND

100,000 Genomes Project – Bioinformatics – Central London OR Cambridge!

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.

A fantastic new opportunity has become available for a Scientific Curator to join their highly motivated Bioinformatics Curation team, working closely with other Curators, Clinical Geneticists and Bioinformaticians within Genomics England to deliver curation requirements to deadlines, and interact with experts across the UK.

Your work will contribute to their genome interpretation pipeline and aid the reporting of diagnoses or clinically actionable information for patients.

RESPONSIBILITIES

Your main responsibilities as a Curator will be:

Curating genetic variants from databases, submitted expert lists and the literature
Assessing evidence for genes involved in rare diseases and cancer and evaluating clinically actionable information
Contributing to the Curation Team effort and supporting needs of the Bioinformatics Team
Delivering assigned curation requirements within deadlines
Interacting with experts in the assigned disease field for review of genes or variants
Supporting the promotion, development, updates and data curation of PanelApp

REQUIREMENTS

The ideal Scientific Curator should meet the following requirements:

Educated at BSc or higher in Genetics, Biological Sciences or equivalent
In-depth understanding of and experience in genetic variation and genomics
Solid curation experience (3-5 years), with a strong background in Genetics and Human Disease
Able 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
Experience of using genetic and disease-based databases, adding information and using curation tools using standardised terms and ontologies for variants, genes, and phenotypes

ABOUT US

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.

COMPENSATION

You'll be able to work in their brand new offices in Central London and in return you will receive competitive salary and have the opportunity to work within a successful company in a fantastic location.

HOW TO APPLY

If you'd like to know more and are interested in applying, please contact Anna on alauterjung[at]pararecruit.com or +44 (0) 121 616 3469 with an up-to-date CV. Look forward to hearing from you!

Keywords: Scientific Curator, Curator, Database, Human Genetics, Rare Disease, Cancer, genetic variants, clinical, PanelApp, curation, query, Biology, Biological Sciences, Human Disease, mapping variants, Bioinformatics, London, UK

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