Clinical Bioinformatician

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Clinical Bioinformatician

The 100,000 genomes project 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 in research, pharmaceutical and academia to collect, store, QC and sequence samples from participants. There is currently a highly talented bioinformatics team in place and Paramount are working with the group to offer additional candidates the opportunity to contribute to the project at the most exciting and challenging phase of the programme. We would also love to hear from Curators, Statistical geneticists, Analysts and Software Developers to join the bioinformatics team.

The aim for this project is to create a new genomic medicine service for the NHS to support diagnosis and better treatments for patients. In time, this will truly transform the way people are cared for.

As a Clinical Bioinformatician you will join a highly talented bioinformatics team and will apply innovative approaches to WGS for processing, analysis, quality assurance and annotation. This role will be a fantastic contribution to the established group and will assist with reporting findings back to the NHS.

Additional responsibilities:

*Integrating phenotypic and other clinical data with whole genome sequencing
*Analysis of WGS in cancer and rare diseases
*Sequence alignment and variant calling of genomes
*Quality assurance and sample provenance monitoring
*Performing quality assurance of the analysis and interpretation made by third parties and in house
*Contributing to the in-house capability to analyse WGS data of patients and aid in the interpretation of findings
*Reviewing variant calls in a timely manner that can be used to inform clinical decisions
*Supporting the team as required at meetings externally and internally

Experienced Required:

*Educated to at least MSc degree level in Bioinformatics or other relevant area
*Expertise in analysis of next generation sequencing (NGS)
*Experience with evidence of high calibre research or diagnostic analysis of patient sequencing
*Strong understanding of genetic principles
*Experience in reviewing read level support for variant calls
*Proficiency in Linux, basic command line skills (Desirable)
*Familiar with the data bases and resources available for variant interpretation
*Comfortable in the use of high performance computing clusters
*Ability to communicate effectively within a multidisciplinary team as well as work independently and to show initiative
*Strong attention to detail
*Ability to prioritise and balance competing demands and cope under pressure and deliver to deadlines

This is an exceptional opportunity to join a project that could change the lives of everyone for generations to come. With funding until 2020, you will join the company as a permanent employee or on a 2-year secondment with the likelihood of extension.

Please don’t hesitate to contact Jade on + , apply to this advert and attach your CV or contact us by email at

Keywords: Bioinformatician, Clinical, Whole Genome Sequencing, London, Bioinformatics, Next Generation Sequencing, NGS, Statistical Genetics, Cancer, Genomics, UK, United Kingdom

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