Genomic Data Scientist

Company: Genomics England (partners with the NHS for whole genome sequencing diagnostics; enabling researchers to understand disease causes and develop new treatments, with patients at the heart of it all).

Role: Genomic Data Scientist to join the Bioinformatics Consulting team, working on genome analysis and interpretation projects with emphasis on rare or complex disease, in collaboration with external researchers and industrial partners. You will work within 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 data in 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 analyses, generate new data and contribute to high quality reports and documentation.

Responsibilities:

• Preparing data for downstream analysis (quality control, functional annotation, aggregation, harmonisation across datasets).
• Planning and supporting analyses to meet project objectives with internal teams and external stakeholders; acting as the 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, MR).
• Researching scientific literature, identifying new processing and analysis approaches, benchmarking and improving tools.
• Contributing to the publication and dissemination of findings via scientific papers, white papers and conference presentations.

Qualifications:

• A PhD involving Statistical/Computational Genetics, Biostatistics, Population Genetics or an equivalent quantitative discipline.
• Strong programming skills (R, Python) and a solid background in statistical genetics; demonstrable experience with whole genome sequencing data in human genetics.
• Strong background in human disease genetics, preferably rare or complex disease; publication or industry track record.
• Experience with long read sequencing data (preferred) or other omics modalities.
• 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, work with complex regions such as HLA/KIR/PGx).
• Experience with cloud, building containers, and running pipelines with workflow languages (ideally Nextflow).
• Strong communication with stakeholders from diverse backgrounds and an understanding of clinical and phenotypic data management and sensitivities around patient data.
• Excellent interpersonal skills, attention to detail, self-motivation, collaborative and delivery-minded."

Salary & Benefits: Salary from £55,000. Benefits include generous leave (30 days plus holidays, remote working options), flexible working, pension (defined contribution with Genomics England matches), life assurance, learning budgets, professional subscriptions, recognition and rewards, health and wellbeing benefits, and commitment to diversity and inclusion.

Closing date: Wednesday 10th September.

Genomics England is committed to an inclusive environment and to equity and diversity in the workplace; policies of non-discrimination apply to all staff and applicants.

Location: Office locations in Cambridge, Leeds & London (role may involve mixing on-site and remote work as applicable).