Senior Rare Disease Analyst

Paramount Recruitment Ltd

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Job ID :

14526


Company Type :

Staffing Firms


Industry :

Science and Research


Education Level :

Master of Science


Address 1 :

United Kingdom,London,London,


Key Skills :

Keywords: Senior, Rare, Disease, Analyst, WGS, WES, DNA, HPC, Python, Version, Control, Genomics, Bi


Salary :

Negotiable


Date Posted :

20 Mar, 2019



Company Name :

Paramount Recruitment Ltd


Location1 :

London




Job Category :

Biotech Jobs


Experience :

Fresher


Job Type:

Permanent


Travel Amount:

negotiable





Description

Senior Rare Disease Analyst - Genomics
London

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.
Genomics England applies state of the art approaches to whole genome sequences for processing, analysis, quality assurance and annotation. This includes integrating phenotypic and other clinical data with whole genome sequencing to create a world-leading, high fidelity data repository for NHS England and third party users.
Genomics England has delivered automated variant classification for the Rare Disease and Cancer Programmes of the 100,000 Genomes Project and will now apply its expertise to supporting NHS England's Genomic Medicine Service.
The Bioinformatics team develops and applies state of the art approaches to whole genome sequences (WGS) in the areas of:
*Analysis of WGS in cancer and rare diseases
*Automated high throughput processing and variant classification
*Quality assurance and sample provenance monitoring

This analyst role is part of a highly motivated Bioinformatics team, working as part of a small team responsible for rare disease analysis and study of non-tumour genomes.

Key Accountabilities:
*Benchmarking tools for quality control, processing and analysis of whole genome sequence data, e.g, alignment, variant callers for variants of different size ranges
*Performing custom analysis for a range of projects
*Developing and prototyping new features for genome analysis in collaboration with internal and potentially external stakeholders
*Collaborating with software developers responsible for converting prototypes to production pipelines
*Establishing general bioinformatics resources for day-to-day use by colleagues

Skills Required:
*MSc or PhD (or equivalent experience) in Bioinformatics or relevant subject or equivalent work experience
*Expertise in one or more areas of human DNA analysis, such as rare disease genomics, family based analysis, genetic association testing, common disease genomics / risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
*Relevant professional experience, e.g. postdoctoral
*Substantial hands-on experience analysing exome or whole genome sequencing data
*Familiar with Unix and use of high performance computing clusters
*Proficient in using R and/or Python to manipulate, visualise and analyse data and achieve tasks programmatically
*Familiar with software version control
*A demonstrable ability to balance competing demands and deliver to deadlines
*Ability to communicate effectively within a multidisciplinary team
*Flexible and co-operative approach to colleagues
*Ability to work well both independently and as part of a team
*Practical knowledge of statistics and/or machine learning
*Strong programming skills

There are some great benefits on offer with this role including a competitive salary, pension, generous holidays and more.
Please do not hesitate to contact Harvey Uppal at huppal@pararecruit.com or call (+44) 121 616 3407 to discuss this opportunity further.
Keywords: Senior, Rare, Disease, Analyst, WGS, WES, DNA, HPC, Python, Version, Control, 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.


Company Name:

Paramount Recruitment Ltd


Headquarters:

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


Sector:

Staffing Firms


Country:

United Kingdom


Zipcode:

B1 1QU


Website:

www.paramountrecruitment.co.uk


Employees:

less than 100


Industry:

Pharmaceutical Recruitment


City:

Birmingham


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.

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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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