Genomic Data Scientist - Diverse Data/Population Genomics

  • London, UK
  • Employees can work remotely
  • Full-time
  • Department: Bioinformatics Research Services
  • Office: London

Company Description

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.

Job Description

We have an exceptionally talented team of Data Scientists at Genomics England, and you'll work together 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 work. The Genomic Data Scientist will play a key role in Genomics England new 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. 

Everyday responsibilities 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. 
  • Establishing general bioinformatics resources for day-to-day use by colleagues and members of the Genomics England Research Environments. 

Skills and Experience for Success

We anticipate the ideal candidate will have:

  • Experience of collaboration with stakeholders, both internal and external, in order to develop prototype and validate new features for genome analysis
  • Pharmacogenomics, typing of complex genomic regions such as HLA/KIR 
  • Strong knowledge of statistics and/or machine learning 
  • Strong 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) 
  • Excellent technical writing skills 
  • A publication record demonstrating your ability to conceive and carry to conclusion scientific investigations 
  • Excellent ability to represent and visualise data to derive insights 

Qualifications

  • PhD and at least 3 years of postdoctoral experience, or equivalent experience, in at least 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. 

Additional Information

Being part of this journey is a reward in itself, however we're pleased to offer our colleagues a great benefits package including:

  • Competitive salary
  • 30 days holiday
  • Generous pension scheme
  • Individual learning budgets for every colleague
  • a raft of other benefits

Talk to our Talent Team and find out how a career with Genomics England will benefit you.

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