Bioinformatician - Rare Disease

Paramount Recruitment Ltd

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Company Type :

Staffing Firms

Industry :

Science and Research

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Address 1 :

United Kingdom,London,London,

Key Skills :

Bioinformatician, Rare Disease Analyst, NGS, Next Generation Sequencing, Cancer, Genomics, Genetic d

Salary :


Date Posted :

21 Aug, 2018

Company Name :

Paramount Recruitment Ltd

Location1 :


Job Category :

Scientific Jobs

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Bioinformatician - Rare Disease Analysis

100,000 Genomes Project - 12-month contract - Central London

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.
Currently their Bioinformatics team are looking for a Rare Disease Analyst to join them for a fixed-term 12-month contract. This role would be ideal for someone with a Bioinformatics background, and some coding experience (preferably Python) within rare diseases.

Your main responsibilities as a Rare Disease Analyst will involve applying computational and statistical methods to analyse large datasets using:
-Whole exome/genome sequencing
-Association testing
-Rare variant association analysis
-Burden testing
-Benchmarking genome analysis pipelines

The ideal Rare Disease Analyst will fulfil the following criteria:
-Postdoc with at least 2-3 years' experience of working within Rare Diseases and Bioinformatics/Computational Biology and Systems Biology
-Deep knowledge of association testing and genomics/rare diseases
-Good programming skills in Python and preferably R, bash or another programming language

Genomics England works with key partners to collect, transport, store, quality check and sequence the samples from participants. They are working with the NHS to launch the world's first Genomic Medicine Service. Patients will have access to personalised treatment when there was no option for them before.

In return you will receive a competitive salary and the opportunity to make a real difference and contribute to the project at its most exciting phase. Due to growth they also have new modern offices. If you'd like to know more about the position and apply, please feel free to contact Anna with an up-to-date CV ( or +44 (0) 121 616 3469).

Keywords: Bioinformatician, Rare Disease Analyst, NGS, Next Generation Sequencing, Cancer, Genomics, Genetic data, Clinical data, Data Analysis, Python, R, genome sequencing, whole genome, rare variants, WGS, NGS, Scientist, Bioinformatics, UK, London

Paramount Recruitment Limited provides services as an agency and an employment business. We regularly have similar roles in this area. Please see our website for details or send your CV in to us to find out the latest opportunities.

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