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BACKGROUND

100,000 Genomes Project – Bioinformatics Team – Cancer & Rare Disease

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 Clinical Bioinformatician to join their highly motivated Bioinformatics team that uses state-of-the art approaches to whole genome sequences in the areas of cancer, rare diseases, sequence alignment and variant calling. This is a 12-month fixed-term contract which would be ideal for a Bioinformatician who has worked on clinical/patient data within the NHS or other organisations.

RESPONSIBILITIES

Your main responsibilities as a Clinical Bioinformatician will involve:

Contributing to their in-house pipeline to analyse WGS data of patients and aid in the interpretation of findings using clinical bioinformatics capabilities
Performing quality assurance of the analysis and interpretation made by third parties and by their in-house pipeline for both Rare Disease and Cancer.
Reviewing variant calls in a timely manner that can be used to inform clinical decisions and for research purposes within the NHS GMCs and academic communities.
Performing user acceptance testing of third party decision support tools for interpretation.
Handling, troubleshooting and prioritising GMC issues from interpretation/system.
Supporting with writing SOPs and documentation about the system.

REQUIREMENTS

The ideal Clinical Bioinformatician should meet the following requirements:

Educated at MSc or PhD level (or equivalent experience) in a medical science or relevant discipline
Proven Scripting Skills in one of more of Python, Bash, R, SQL essential
Proven Knowledge/Understanding in genetics/genomics and variant calling essential
Demonstrated understanding of quality management systems and implementing process
improvements and supporting staff with process development and documentation
Familiarity with clinical research and the NHS
Experience of writing and following Standard Operating Procedures

LOCALE

You'll be working 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 in Central London.

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.

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: Clinical, Bioinformatics, Bioinformatician, NHS, GMC, WGS, NGS, Whole Genome Sequencing, pipeline, Cancer, Rare Disease, patient, data, Clinical Research, SOP, Standard Operating Procedure, Python, R, Bash, SQL, PhD, MSc, variant calling, genetics, genomics, London, UK

Discussion forums: Opportunity: Clinical Bioinformatician -- 12-month contract @ Genomics England -- London, UK

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