Genomic Data Scientist

Genomics England Limited; Cambridge; Hybrid; GBP 51,000 - GBP 60,000; Full time

Job summary

A genomic healthcare organization in Cambridge seeks a Genomic Data Scientist to work on analysis and interpretation projects for rare and complex diseases. The role involves preparing data, performing computational analyses, and collaborating with diverse teams. Ideal candidates should hold a PhD in a quantitative field and have robust programming skills in R and Python. They offer a competitive salary, flexible working arrangements, and a supportive work environment.

Benefits

30 days holiday plus bank holidays

Flexible working arrangements

Defined contribution pension with employer matching

Learning budgets and training support

Subsidized gym membership

Employee recognition program

Qualifications

• PhD in a quantitative discipline focusing on genome analysis.
• Strong programming skills in R and Python.
• Experience with genomic datasets and customer communications.

Responsibilities

• Prepare data for analysis including quality control and annotation.
• Support analyses with internal and external teams.
• Perform computational analyses on genomic data.
• Contribute to scientific publications and presentations.

Skills

Strong programming skills (R, Python)

Statistical genetics background

Experience with whole genome sequencing data

Human disease genetics knowledge

Experience with long read sequencing data

Knowledge of genetic association testing

Experience in cloud computing

Strong communication skills

Education

PhD in Statistical/Computational Genetics, Biostatistics, or equivalent

Tools

Nextflow

Cloud computing platforms

Job description

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 Genomic Data Scientist to join our Bioinformatics Consulting team to work on a range of genome analysis and interpretation projects with an emphasis in rare or complex disease, in collaboration with and on behalf of our external researchers and industrial partners.

In this role, you will work as part of multidisciplinary teams to develop and execute cutting edge projects that leverage Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic discovery, and patient stratification.

You will contribute to the scoping, implementation, and application of state‑of‑the‑art approaches for analysis of genomic and other omics modalities, in both leading and supporting capacity. As an expert user of our datasets and research environment, you will develop and fine‑tune tools and pipelines to perform custom computational analyses, generate new data and contribute to high quality reports and documentation.

Responsibilities

• Preparing data for downstream analysis, e.g. through quality control, functional annotation, aggregation, harmonisation across different datasets.
• Planning and supporting analyses to meet project objectives with internal teams and external stakeholders. Providing support to internal teams and collaborators and being the point of reference for genomic datasets and analytical approaches.
• Performing custom computational analyses on whole genome sequencing and other omics data, such as GWAS, aggregate variant testing, meta‑analysis, differential abundance, fine‑mapping and MR.
• Researching the scientific literature, identifying new approaches to processing and analysis of genomics and multi‑omics data, benchmarking and improving tools.
• Contributing to the publication and dissemination of findings via scientific papers, white papers and conference presentations.

Skills & Experience

• Strong programming skills (R, Python) and solid background of statistical genetics.
• Demonstrable experience using whole genome sequencing data in the context of human genetics.
• Strong background in human disease genetics, preferably in rare or complex disease, demonstrated by publication record or industry track record.
• Demonstrable experience in working with long read sequencing data (preferred) or other omics modalities.
• Proven track record in one or more areas of human germline DNA analysis such as genetic association testing, population genetics, pharmacogenomics, rare disease genomics, structural variation analysis, working with complex genomic regions such as HLA/KIR/PGx.
• Experience with working in the cloud, building containers, and running pipelines using workflow languages (ideally Nextflow).
• Proven ability to communicate with stakeholders from diverse backgrounds (e.g. management, IT, R&D, biology, bioinformatics) and keep track of customer relationships, and a clear understanding of clinical and phenotypic data management and the sensitivities surrounding patient cohort data.
• Excellent interpersonal skills, attention to detail, self‑motivation, collaborative and delivery mindset.

Qualifications

A PhD involving one of the following: Statistical or Computational Genetics, Biostatistics, Population Genetics or equivalent quantitative discipline.

Salary

£55,500

Closing Date

Wednesday 18th February

Benefits

• 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 (3× 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

Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background.

Genomics England’s policies of non‑discrimination and equity will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part‑time or employed under a permanent or a fixed‑term contract or any other relevant factor.

Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Our People policies outline our commitment to inclusivity.

We aim to remove barriers in our recruitment processes and to be flexible with our interview processes. Should you require any adjustments that may help you to fully participate in the recruitment process, we encourage you to discuss this with us.

Culture & Working Model

We have four key behaviours that represent what we would like Genomics England to feel like and the culture we want to encourage, in order for us to achieve our mission. These behaviours help us all work well together, deliver on our outcomes, celebrate our successes and share feedback with each other. You can read about these and other aspects of our culture here: Culture | Genomics England

Genomics England operates a blended working model. We expect most people to come into the office a minimum of 2 times each month. However, this will vary according to role and will be agreed with your team leader. There is no expectation that people will return to the office full time unless they want to, however, some of our roles require full time on‑site attendance (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 are: Canary Wharf, Cambridge and Leeds.

Background Checks

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 the 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.

Contact & Application

To apply, please submit your application through our standard application portal using the details below. Please note that only applications received before the closing date will be considered.

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Screening Questions – Availability, Salary expectations, Current right to work in the UK, Future visa or work permit need, Coding experience, Genomic data experience.

Reasonable adjustments may be requested at interview stage for disabilities or long‑term health conditions.

Thank You

Your application has been submitted! We will review your application as soon as possible.