Rare Genetic Disease Analyst - Genomics England

Paramount Recruitment Ltd

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Job ID :


Company Type :

Staffing Firms

Industry :


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Address 1 :

United Kingdom,London,London,

Key Skills :

Rare Disease, Burden, Analyst, Bioinformatics, Computational, Biology, Software, Pipeline, WGS, Whol

Salary :


Date Posted :

21 Apr, 2017

Company Name :

Paramount Recruitment Ltd

Location1 :


Job Category :

Biotech Jobs

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Rare Genetic Disease Analyst - Genomics England

The 100,000 Genomes Project is a world-leading project that aims to support clinical interpretation and research using whole genome sequence data from families with a variety of rare genetic disorders. In addition to genome sequencing, detailed phenotypic data are collected on participants and participants consent to their genetic data being linked to health records. Within the Bioinformatics group, the Rare Disease Analysis team is responsible for:

*Prototyping methods for quality assurance of genomic data and checking genetic inference against reported data such as family structure
*Developing and enhancing of an existing automated pipeline for clinical interpretation of whole genome sequencing data from families with rare genetic disorders
*Adding support for additional variant types, such as copy number and structural variants, to the interpretation pipeline
*Comparing different methods for e.g. variant calling or prioritisation to inform the choice of methods used by the automated pipeline
*Producing outputs such as allele frequencies and relatedness estimates to aid clinical interpretation and research
*Evaluation of diagnostic outcomes from the rare disease programme based interpretation pipeline output and feedback from recruiting hospitals
*Maintaining in-house capability to analyse individual families and cohorts of families with rare disorders and aid in the interpretation of results
Qualifications and experience

*PhD or equivalent experience working in bioinformatics or statistical genetics
*Significant expertise in analysing next generation sequencing data in the context of rare genetic disorders in humans
*Background in a quantitative discipline such as statistics, computer science, or physics.
*A record of research output demonstrating relevant expertise


*Proficient in using R, SciPy or equivalent to manipulate, visualise and analyse data
*Ability to script in Python (or ability to use equivalent and willing to learn Python)
*Experience with Bash/ Unix
*Familiar with common bioinformatics formats and tools
*Experience using software version control
*Good knowledge of human genetics
*Able to work effectively within a multidisciplinary team
*Ability to prioritise and balance competing demands
*Self motivated with good problem solving skills
*Experience using high performance computing clusters

If you have any questions about this or would like some further details than please don't hesitate to contact Jack Lacy via jlacy@pararecruit.com or call 0121 616 3467.

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.

Company Name:

Paramount Recruitment Ltd


No. 5 Lower Temple Street,No. 5 Lower Temple Street


Staffing Firms


United Kingdom


B1 1QU




less than 100


Pharmaceutical Recruitment



Phone No. :

+44 (0)121 616 3460

Specialist in Permanent, Contract and Interim recruitment solutions to the Pharmaceutical and Life Science industries throughout Europe.

Our goal is to assist our candidates in finding that “perfect fit” between individual skills and experience and the right career opportunity. We identify and only present the positions that accurately reflect a chosen professional path. We discuss opportunities in detail, respect choices and ask permission prior to presenting any details to prospective clients. We brief and prepare every candidate for client meetings, and once the interview process is complete, provide feedback in a timely manner.

Our clients choose Paramount because:
• We are a Corporate Member of REC (Recently Inspected)
• We aspire to build long-term partnerships
• Our consultants are highly trained with expert market knowledge
• We are one of the most effective advertisers on the Internet
• We provide tailored Recruitment Solutions
• We keep up-to-date with Industry information – Salary scales, market knowledge, skills shortages

For more information,visit www.paramountrecruitment.co.uk.

View all Paramount Recruitment Ltd Jobs

Established in January 2003, Paramount Recruitment is an independent recruitment consultancy which has grown to be one of the leading recruiters to the Healthcare, Pharmaceutical and Scientific industries, throughout the UK and Europe.

Our Vision is to be internationally recognised and admired as the number one recruitment solutions provider to the Healthcare Pharmaceutical and Scientific industries.

Our Mission is to employ the best Consultants, whose aim is to deliver a professional and superior service to ensure our clients achieve their business goals and our candidates attain their career aspirations.
Our Values define who we are as an organisation and what makes us different. They influence the way we work with each other – and the way we serve our clients and candidates:

  • Respect - Paramount people listen, engage and contribute to ensure we make  the best possible decisions.  We are proud to work in recruitment.  Our diversity    makes our team uniquely adaptable to whatever challenges be it location, industry or culture we work in.
  • Integrity - Credibility means everything.  We are honest and transparent in our approach with everyone.
  • Entrepreneurial - We make it our business to excel when others can’t.  We relish the opportunity of a challenge using innovative and unique solutions.  We strive to be the agency of choice.
  • Experts Continuous knowledge building and sharing is central to our success.  We work in partnership with clients and candidates, our combined knowledge of industry and recruitment ensures we match the right person to the right job at the right time.
  • Success – At Paramount we recognise and reward achievement, we nurture an environment where people can fulfil and maximise their potential.

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