Genomics England

Genomic Data Scientist - Rare Disease OR Cancer

Job description

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

We are looking for Genomic Data Scientists in both Rare Disease and Cancer to work on a range of exciting projects, including:

  • New feature development and improvement for our clinical whole genome sequencing analysis pipelines which help patients with Rare Diseases and Cancer,
  • Development and improvement of methods and tools for genomic analysis in diverse and underrepresented populations,
  • Pioneering the use of long read sequencing in healthcare, using one of the largest collections of clinical long read sequencing in the world,
  • Investigating the feasibility of whole genome sequencing in newborn screening for treatable conditions.

You will work in an agile collaborative environment as part of multidisciplinary team, building state-of-the-art analytics into clinically-fit production quality solutions plus implement robust, scalable analysis fit for clinics.

Everyday responsibilities include:

  • Researching the scientific literature, identifying new approaches to genome analysis, as well as contributing to the publication and dissemination of our learnings in the form of scientific papers, white papers and conferences
  • Developing and fine-tuning algorithms for variant prioritisation and classification to improve diagnostics and/or actionability,
  • Benchmarking and improving tools for processing and analysis of whole genome data (e.g. alignment, variant callers, quality control), and
  • Performing custom computational analyses.

Skills and Experience for Success

We anticipate the ideal candidate will have:

Cancer genomics, approaches to call somatic variation and emerging pan-genomic markers & clinical interpretation of cancer genomes.

- OR -

One or more areas of human germline DNA analysis, such as rare disease genomics, population genetics, family-based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR.

Strong programming skills (Python, R) and knowledge of statistics and/or statistical genetics and/or machine learning.

Experience of high throughput sequencing algorithms.

Managing the full cycle of analysing NGS data from sequencing QC to annotation and prioritisation of variants.


A PhD involving one of the following: Rare Diseases, Cancer Bioinformatics, Computational Biology, Systems Biology, Statistical Genetics or equivalent work experience,

Ideally, undergraduate studies with a strong quantitative discipline component (such as physics, computer science, or maths).

These skills could also have been developed, for example, through a PhD in computational biology, statistical genomics, or statistical genetics.

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.


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.


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