Genomic Data Scientist - Research and Development

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

As a Genomic Data Scientist, you will work primarily in the Scientific Research and Development team to assess the utility of cutting-edge sequencing techniques and approaches. The post holder will carry out high calibre bioinformatics and genomic analysis research, investigating and developing solutions to extract more information from the genome.

Everyday responsibilities include:

• Performing custom computational analyses for a range of projects and carefully documenting results using reproducible computing principles
• Benchmarking and fine-tuning tools for quality control, processing, and analysis of sequence data, e.g., alignment, variant callers for types of variants 
• Developing, prototyping, and validating new features and reference datasets for genome analysis in collaboration with internal and external stakeholders
• Continuously scan the scientific literature to identify new approaches to genome analysis that can be implemented to improve our capabilities
• Contribute to the publication and dissemination of our learnings in the form of scientific papers, white papers & conferences, etc.

Skills and Experience for Success

We anticipate the ideal candidate to have the following:

• Competent in either Python or R programming for data processing, analysis and visualisation  
• Exposure of the requirements for production quality code and its testing
• Experience of collaboration on code and good working knowledge of Git
• Strong knowledge of high throughput sequencing algorithms and available resources.
• Familiarity with common sequencing technologies (ie. Illumina, ONT, Pacbio).
• Good understanding of technology, file formats, variant calling algorithms, analysis workflows. 
• Ability to understand statistical and/or machine learning methods, in particularly applied to human genomics with awareness of their limitations and assumptions.

Qualifications

Postdoctoral level (or equivalent) in a strongly computational and statistical discipline such as statistical genetics/genomics, machine learning or computational biology.

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

As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check.  We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare. 

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 Winter 2022 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 working in mind, and with the flexibility to adapt to changing work patterns. During the pandemic we will be following government advice on working from home guidance. 

#LI-Hybrid