Genomic Data Scientist; office locations

Overview

Genomics England is a global leader in enabling genomic medicine and research. Building on the 100,000 Genomes Project, we support the NHS’s world-first national whole genome sequencing service and run the National Genomic Research Library, delivering major genomics initiatives. 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, while securing the UK’s position as a leader in discovering, proving and benefiting from genomic innovations.

We collaborate with patients, doctors, scientists, government and industry to improve genomic testing and help researchers access health data and technology to enable new discoveries and targeted medicines for everyone. Behind healthcare and research outcomes, Genomics England designs, develops and operates complex healthcare software systems. We are on the cusp of big changes with the prospect of genomics becoming the fabric of everyday healthcare across the lifecycle.

Job Description
We are seeking a Genomic Data Scientist to join our Bioinformatics Consulting team to work on genome analysis and interpretation projects with emphasis in rare or complex disease, in collaboration with external researchers and industrial partners. 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, and, 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. quality control, functional annotation, aggregation, and 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 acting as the 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 scientific literature to identify new processing and analysis approaches for 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.

• A PhD involving one of the following:
  Statistical or Computational Genetics, Biostatistics, Population Genetics or an equivalent quantitative discipline.
• 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, demonstrated by publication or industry experience.
• Experience 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, and work with complex genomic regions (e.g., HLA/KIR/PGx).
• Experience with cloud environments, building containers, and running pipelines using workflow languages (ideally Nextflow).
• Strong communication with stakeholders from diverse backgrounds and an understanding of clinical and phenotypic data management and data sensitivities.
• Excellent interpersonal skills, attention to detail, self-motivation, collaborative and delivery mindset.

Salary from: £55,500

• Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and option to apply for up to 30 days of…