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Rare Disease Analyst - Genomics England

London   •  Negotiable  •  Permanent, Full time


Rare Disease Analyst - Genomics England

To build on the success of the 100,000 Genomes Project, the Government tasked NHS England with support from Genomics England to launch a new NHS Genomic Medicine Service comprising a National Genomic Test Directory where 300,000 tests have been re-profiled and whole genome sequencing will be available for direct healthcare. Through 7 Genomic Laboratory Hubs this offers equitable access to the 55 million people in England to the latest genomic medicine and research. This will lead to faster diagnosis and personalised medicine.

Genomics England has been asked to prepare a plan for up to 5 million genomic tests over the next 5 years.

We are excited to advertise this position for a Rare Disease Analyst. This role is part of a talented and motivated Bioinformatics team and it will be responsible for 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

Experience Required:
*Post doctorate with at least 2-3 years' experience of working in this field
*Deep knowledge of association testing
*Good knowledge of genomics and rare diseases
*A demonstrable ability to cope under pressure and deliver to deadlines
*Ability to communicate effectively within a multidisciplinary team
*Flexible and co-operative approach to colleagues
*Ability to work independently and to show initiative within a team
*Ability to prioritise and balance competing demands
*Excellent technical writing skills

There are some great benefits on offer with this role including a competitive salary, pension, generous holidays and more.

If you're interested, please do not hesitate to contact Jack Lacy at jlacy@pararecruit.com or call (+44) 121 616 3467 to discuss this opportunity further.

Keywords: Rare, Disease, Analyst, WGS, WES, Genomics, Bioinformatics, Pipelines, Statistics, Testing, Writing, Variants, NGS, London, Fixed-Term.

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.


You must be eligible to work in the UK. Learn more

  • Agency: Paramount Recruitment
  • Reference: GELJLRDA
  • Posted: 14th May 2019
  • Expires: 11th June 2019

Paramount Recruitment

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