Genomic Data Scientist in Rare Disease (we have office locations in Cambridge, Leeds & London)

Company Description

Genomics England is a global leader in enabling genomic medicine and research, focused on creating a world where everyone benefits from genomic healthcare. Building on the 100,000 Genomes Project, we support the NHS’s world-first national whole genome sequencing service and run the growing National Genomic Research Library, alongside delivering numerous major genomics initiatives. By connecting research and clinical care at national scale, we enable immediate healthcare benefits and advances for the future.

Our mission is to provide the evidence and digital systems so that by 2035 genomics could play a role in up to half of all healthcare interactions, whilst securing the UK’s position as the best place to discover, prove and benefit from genomic innovations.

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.

Behind the Healthcare and Research outcomes, Genomics England delivers through designing, developing and operating complex healthcare software systems.

We're on the cusp of big changes with the real prospect of genomics becoming the fabric of everyday healthcare through the lifetime – from birth to old age.

Job Description

We are seeking a passionate and innovative Genomic Data Scientist to join our cutting-edge team.

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 for rare disease diagnostic and screening.
• Benchmarking and improving tools for processing and analysis of whole genome data (e.g. alignment, variant callers, quality control), and performing custom computational analyses. 

  We anticipate the ideal candidate will have experience in: 

• 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 essential, R desirable). 
• Knowledge of statistics and/or statistical genetics and/or machine learning.
• Experience of high throughput sequencing algorithms. 
• Managing the full cycle of analysing high-throughput sequencing data from sequencing quality control to annotation and prioritisation of variants, preferably human whole genome sequencing data. 

Qualifications

A PhD involving one of the following: Rare Diseases, 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

Salary from £55,000

Please provide a cover letter highlighting how your skills and experience align with the role.

Closing date for applications - Wednesday 29th April

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:

• Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and the option to apply for up to 30 days of remote working abroad annually (approval required).
• Family-Friendly: Blended working arrangements, flexible working, enhanced maternity, paternity and shared parental leave benefits.
• Pension & Financial: Defined contribution pension (Genomics England double-matches up to 10%, however you can contribute more if you wish), Life Assurance (3x salary), and a Give As You Earn scheme.
• Learning & Development: Individual learning budgets, support for training and certifications, and reimbursement for one annual professional subscription (approval required).
• Recognition & Rewards: Employee recognition programme and referral scheme.
• Health & Wellbeing: Subsidised gym membership, a free Headspace account, and access to an Employee Assistance Programme, eye tests, flu jabs.

Equal opportunities and our commitment to a diverse and inclusive workplac