Job Description
Company DescriptionGenomics in 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 a range of genome analysis and interpretation projects, with an emphasis on rare or complex diseases, in collaboration with external researchers and industrial partners.
In this role, you will work as part of multidisciplinary teams to develop and execute cutting-edge projects leveraging 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 both leading and supporting capacities. 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.
Everyday responsibilities include:
- Preparing data for downstream analysis, e.g., through quality control, functional annotation, aggregation, harmonization across datasets.
- Planning and supporting analyses to meet project objectives with internal teams and external stakeholders.
- Providing support to internal teams and collaborators, serving as 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 scientific literature, identifying new approaches to processing and analyzing 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.
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.
- Strong background in human disease genetics, preferably in rare or complex diseases, demonstrated by publications or industry experience.
- Experience working with long-read sequencing data or other omics modalities.
- Proven track record in human germline DNA analysis areas such as genetic association testing, population genetics, pharmacogenomics, rare disease genomics, structural variation analysis, or working with complex genomic regions.
- Experience working in the cloud, building containers, and running pipelines using workflow tools (ideally Nextflow).
- Ability to communicate effectively with stakeholders from diverse backgrounds and understand clinical and phenotypic data management and sensitivities.
Qualifications:
A PhD in Statistical or Computational Genetics, Biostatistics, Population Genetics, or a related quantitative discipline.
Additional Information
Salary from £55,000. Closing date for applications: Wednesday 10th September.
We offer a comprehensive benefits package, including generous leave, flexible working arrangements, pension scheme, learning and development opportunities, recognition and rewards, and health and wellbeing support.
Genomics England is committed to diversity and inclusion, promoting equity and a respectful workplace environment.
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