Rare Disease Bioinformatician
Genomic Medicine – Permanent – Central London
Paramount are working in partnership with Genomics England to expand their team. To build on the success of the recently completed 100,000 Genomes Project the Government tasked NHS England with support from Genomics England to launch a new NHS Genomic Medicine Service. Through 7 Genomic Laboratory Hubs this offers equitable access to the 55 million people in England to the latest genomic medicine and research which will lead to faster diagnosis and personalised medicine.
Currently their Bioinformatics team are now looking for a Rare Disease Analyst to join them on a permanent basis. This role would be ideal for someone with a Bioinformatics background working on rare disease data, and some coding experience (preferably Python).
Your main responsibilities as a Rare Disease Analyst will involve applying computational and statistical methods to analyse large datasets using:
-Whole exome/genome sequencing
-Rare variant association analysis
-Benchmarking genome analysis pipelines
The ideal Rare Disease Analyst will fulfil the following criteria:
-PhD or (ideally) 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 (firstname.lastname@example.org or +44 (0) 121 616 3469).
Keywords: Bioinformatician, rare disorder, 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
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Job Reference: AL2503RDA_1553530703
Broadcast As: 26629
Salary To: Negotiable
Job Type: Full Time
Job Term: Permanent
Job Industry: Genomics
Recruitment Consultant: Anna Lauterjung