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

Job Description

CompanyDescriptionGenomicsin England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. 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.

Job Description

We are seeking a Genomic Data Scientist to join our Bioinformatics Consulting team to work on genome analysis and interpretation projects, with an emphasis on rare or complex diseases, in collaboration with external researchers and industrial partners. You will work as part of multidisciplinary teams to develop and execute innovative projects leveraging Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic development, and patient stratification.

Your responsibilities include:

1. Preparing data for analysis, including quality control, functional annotation, aggregation, and harmonization across datasets.
2. Planning and supporting analyses to meet project objectives with internal teams and external stakeholders.
3. Providing support to internal teams and collaborators, serving as the point of reference for genomic datasets and analytical approaches.
4. 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.
5. Researching scientific literature to identify new approaches for processing and analyzing genomics and multi-omics data, benchmarking and improving tools.
6. Contributing to the publication and dissemination of findings via scientific papers, white papers, and conference presentations.

Skills and Experience for Success

• Strong programming skills (R, Python) and a solid background in statistical genetics.
• Experience using whole genome sequencing data in human genetics.
• Background in human disease genetics, preferably in rare or complex diseases, demonstrated by publication or industry experience.
• Experience with additional omics modalities (e.g., long read sequencing, single-cell transcriptomics, proteomics, metabolomics).
• Proven track record in human germline DNA analysis, such as genetic association testing, population genetics, pharmacogenomics, or structural variation analysis.
• Experience working in the cloud, building containers, and running pipelines in Nextflow.
• Ability to communicate effectively with stakeholders from diverse backgrounds and understand clinical and phenotypic data management issues.

Qualifications

A PhD in Statistical or Computational Genetics, Biostatistics, Population Genetics, or a related quantitative discipline.

Additional Information

Salary from £55,000. We offer comprehensive benefits, including generous leave, flexible working arrangements, pension schemes, learning and development support, recognition programs, and health and wellbeing initiatives. We are committed to diversity, equity, and inclusion, fostering an environment where everyone feels welcomed and respected.

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