Senior Bioinformatician

2 weeks ago

London, Greater London, United Kingdom Genomics England Full time
Company Description

Genomics England partners with the NHS to provide whole genome sequencing diagnostics.

We also equip researchers to find the causes of disease and develop new treatments - with patients and participants at the heart of it all.


Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research.


We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.


Job Description:

Everyday responsibilities include:

  • Ensure the smooth operations of the pipelines and troubleshoot problems when they occur by overseeing workflows and intervening if processes are broken, need to be restarted or resubmitted
  • Liaise with the development squads to report any issues and design solutions
  • Train junior members of the team on standard operating procedures and core systems
  • Mentor team members on best practice
  • Identify efficiencies in team processes and initiate process improvements
  • Produce regular monthly reporting for NHSE (payments, performance, etc)
  • Respond to data access requests for audit logs by GLHs as part of the running of the GLH
  • Carry out their responsibilities in accordance with the various standards and accreditations achieved by Genomics England (ISO15189, IVDD, etc)
  • Display initiative, collaboration and ownership in their day to day
  • Know and understand the meaning behind our virtues and leadership behaviours and embody them in all aspects of your role

Essential Skills

  • Strong background in human genetics
  • Proficient use of Python and / or R for scripting, data wrangling and data visualisation
  • Experience in bioinformatics including extensive use of NGS toolchains in Genomic Medicine, reference databases such as Ensembl, Omim & Clinvare
  • Working knowledge of statistics and machine learning principles and tools
  • Experience wrangling data from various sources such as JSON, XML, tabular, relational
  • Extensive experience in analysis of largescale genomic data using bioinformatics tools and pipelines
  • Strong communication skills, both written and verbal and excellent facilitation, influencing and presentation skills
  • Experience with highperformance computing or public cloud data processing
  • Established national networks of peers
  • Demonstrate understanding of quality management systems and implementing process improvements and supporting staff with process development and documentation.
  • Experience collaborating on code using version control and pull request approaches
  • Adaptable to an everevolving working environment
-
Desirable Skills

  • Experience working with containers
  • Experience working in agile teams
  • Experience of working in an accredited environment (ISO15189 or IVDD)

Qualifications:

MSc or higher in bioinformatics or related field

Additional Information


Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we're continually improving our benefits package.

We pride ourselves on investing in our people and supporting them to achieve their career goals, as well as offering a benefits package including:

  • 30 days' holiday (plus bank holidays), with additional days for long service awards
  • A generous pension scheme of up to 15% combined contribution
  • Individual learning budgets for every colleague, a Blinkist account and a wide variety of courses on our portal
  • A wide variety of wellness benefits including Gympass, a Headspace account, free weekly Yoga classes
  • Enhanced maternity & paternity benefits
  • Blended working arrangements
Talk to our Talent Team and find out how a career with Genomics England will benefit you.

LI-Hybrid

Genomics England operates a blended working model as we know our people appreciate the flexibility. We expect most people to come into the office 2 times each month as a minimum. However, this will vary according to role and will be agreed with your team leader. For some people this is 1 day a quarter, for others it is several days a week. There is no expectation that staff will return to the office full time unless they want to.

The exception would be some of our roles that would require you to be on site full time e.g., lab teams, reception team.


Our teams and squads have, and will continue to, reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum.

Our office locations at the moment are Cambridge and Farringdon (London) and in January 2023 we are relocating our London office location to Canary Wharf.

We will also be expanding our regional offices.

Looking ahead to our move to Canary Wharf, we will be designing our new space with blended

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