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

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.

• 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.

• 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.