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About the Role

Genomics England is seeking a Genomic Data Scientist to join the Bioinformatics Consulting team. This role will focus on genome analysis and interpretation projects, particularly in rare or complex diseases, in collaboration with external researchers and industrial partners. You will work within multidisciplinary teams to develop and execute projects using Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic discovery, and patient stratification.

Responsibilities

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

Requirements

Strong programming skills (R, Python) and a solid background in 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, evidenced by publication record or industry track record.
Demonstrable experience with at least one additional omics modality (e.g., long read sequencing, single cell transcriptomics, proteomics, metabolomics).
Proven track record in one or more areas of human germline DNA analysis (e.g., genetic association testing, population genetics, pharmacogenomics, rare disease genomics, structural variation analysis, working with complex genomic regions like HLA/KIR/PGx).
Experience with cloud environments, building containers, and running pipelines in Nextflow.
Proven ability to communicate with diverse stakeholders (management, IT, R&D, biology, bioinformatics) and manage customer relationships.
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.

Skills

R
Python
Statistical Genetics
Whole Genome Sequencing Data Analysis
Human Genetics
Human Disease Genetics
Rare Disease Genetics
Complex Disease Genetics
Omics Data Analysis
Long Read Sequencing
Single Cell Transcriptomics
Proteomics
Metabolomics
Human Germline DNA Analysis
Genetic Association Testing
Population Genetics
Pharmacogenomics
Structural Variation Analysis
HLA/KIR/PGx Analysis
Cloud Computing
Container Building
Nextflow Pipelines
Stakeholder Communication
Clinical Data Management
Phenotypic Data Management
Interpersonal Skills
Attention to Detail
Self-Motivation
Collaboration
Delivery Mindset

Location

London

Work Type

Blended working model
Hybrid working

Experience Level

Education Level

PhD in Statistical or Computational Genetics, Biostatistics, Population Genetics or equivalent quantitative discipline.

Salary/Compensations

£56,594

Benefits

30 days’ holiday plus bank holidays
Additional leave for long service
Option to apply for up to 30 days of remote working abroad annually
Blended working arrangements
Flexible working
Enhanced maternity, paternity and shared parental leave benefits
Defined contribution pension (Genomics England double-matches up to 10%)
Life Assurance (3x salary)
Electric Vehicle salary sacrifice scheme
Give As You Earn scheme
Individual learning budgets
Support for training and certifications
Reimbursement for one annual professional subscription
Employee recognition programme
Referral scheme
Subsidised gym membership
Free Headspace account
Access to an Employee Assistance Programme
Eye tests
Flu jabs

About the Company

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.

Equal Opportunity

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 and 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.
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.