Genomic Data Scientist - Diverse Data/Population Genomics
- London, UK
- Department: Bioinformatics Research Services
- Office: London
Genomics England successfully led the world-leading 100,000 Genomes Project, which compared and analysed individuals’ genetic codes to help diagnose, treat and prevent illness.
We're now accelerating our impact, working with the NHS to further develop and embed genomic healthcare and research in Britain. Our next chapter involves 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.
We have an exceptionally talented team of Data Scientists at Genomics England, and you will work in collaboration to provide support to our research partners, ensuring they can gain the maximum value from the meaningful data we have collated since we began our journey.
The Genomic Data Scientist will play a key role in Genomics England new diversity programme to tackle the lack of diversity in genomic datasets. You will play an important part in ensuring this data can be used to the fullest to advance research into how personalised genetic medicine can become a reality.
Other duties include:
- Create tools, including developing, prototyping, and validating new features for genome analysis to enable better diagnostics, clinical management and research in underrepresented populations,
- Benchmarking and fine-tuning tools for quality control, processing and analysis of whole genome sequence data, e.g., alignment, variant callers for types of variants
- Develop algorithms for variant prioritisation / classification to improve their diagnostic potential or actionability
- Developing, prototyping, and validating new features 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.
Ideally you will have experience in pharmacogenomics, typing of complex genomic regions such as HLA/KIR plus strong knowledge of statistics and/ or machine learning.
A passion for Diverse Data/Population Genomics and a publication record demonstrating your ability to conceive and carry to conclusion scientific investigations.
Strong collaboration with stakeholders, both internal and external, in order to develop prototype and validate new features for genome analysis
Excellent knowledge of high throughput sequencing algorithms and available resources.
Experience with full cycle of analysing NGS data from sequencing QC to annotation and prioritization of variants.
Strong programming skills (Python, R)
PhD and at least 3 years of postdoctoral experience, or equivalent experience, in one of the following: genetics/genomic with a strong computational component, statistical genetics, genetic epidemiology, bioinformatics with the focus on human genomics.
Ideally undergraduate studies in a strongly quantitative discipline such as (e.g. 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.
The successful candidate will receive a competitive salary and benefits package along with the opportunity of working and collaborating with the best researchers and bioinformaticians in the UK.
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 operate 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 Autumn 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.