Senior/Lead Health Data Scientist – Statistical Genetics

Optima Partners
Edinburgh
2 months ago
Applications closed

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Senior/Lead Health Data Scientist – Statistical Genetics

We are an advanced data and business consultancy headquartered in Edinburgh, UK. We are a practitioner-led organisation that collaborates with top consumer brands to drive transformation and foster customer-centricity through our expertise in customer strategy, innovative design, and advanced data science and engineering.


In late 2023, we proudly launched our new division, bioXcelerate AI, which stands at the forefront of revolutionising life sciences and healthcare research. bioXcelerate AI uses state-of-the‑art data science and proprietary algorithms to accelerate the transformation of data into actionable insights, redefining industry standards. At bioXcelerate, we are fostering a scientific community; therefore, our scientists are exposed to a vast academic collaborations while delivering on pressing issues in the life sciences industry.


The opportunity

As part of our expansion, we are dedicated to advancing our capabilities in data science and statistical genetics. We are seeking an exceptional Data Scientist specialising in Statistical Genetics and Computational Biology to join our team. This role will be pivotal in driving our genetic research initiatives and contributing to cutting‑edge solutions that enhance our services.


What you will be doing

  • Design and conduct advanced statistical analyses of large-scale genetic and genomic datasets.
  • Ability to interpret the results and find tangible link between the outcomes and the methodology applied.
  • Develop and validate theoretically grounded methods to understand genetic contributions to complex traits and diseases.
  • Stay abreast of the latest advancements in statistical genetics and bioinformatics, incorporating relevant techniques into ongoing projects.
  • Drive forward the development of the Innovation capabilities & lead the growth of the team
  • Ensure the integrity, security, and confidentiality of genetic data in compliance with relevant regulations.
  • Implement and maintain high standards for data quality and reproducibility in research findings.
  • Communicate complex statistical genetic concepts and findings to non-technical stakeholders.
  • Communicate and align with engineering and product teams and work towards achieving common understanding of needs and requirements.
  • Ensure the deliverables follow a timely manner according to the scope pre-defined for individual projects.
  • Prepare and present scientific publications, reports, and presentations to both internal and external audiences.

What skills we would like you to have

  • PhD (or Master’s degree with extensive experience) in quantitative discipline such as Statistical Genetics, Bioinformatics, Computational Biology, or a related field.
  • Minimum 3 years of experience in statistical genetics or a closely related discipline.
  • Strong programming skills in languages such as R, Python, and experience with relevant bioinformatics tools and databases.
  • Extensive experience with large-scale genomic datasets (e.g., Open Target Genetics, GWAS-/eQTLCat) and biobanks (e.g., UKBiobank, FinnGen).
  • Experience in target validation procedures such as variant annotations (VEP), GO enrichment, pathway enrichment, PPIs.


  • Experience working with at least one cloud platform (Azure, GCP, AWS).


  • Proven track record of accomplishment of conducting and publishing high-quality research in statistical genetics.
  • Effective communication skills with the ability to convey complex scientific concepts to a diverse audience.
  • Apply statistical genetics methodologies such as genome-wide association studies (GWAS), meta-analysis, polygenic risk scoring, heritability.
  • Apply genetics causal inference methodologies such as finemapping, colocalization and Mendelian randomization.
  • Scientifically support ideation, design, development and maintenance of the large-scale pipelines and workflows.
  • Ensure robust data processing pipelines and workflows for handling large-scale genomic data.
  • Familiarity with target validation approaches such as ontology & pathway enrichment, gene and protein annotations, disease-phenotype associations.

What we offer

  • Competitive base salary
  • Inclusion in our annual discretionary bonus plan with an on-target performance bonus of up to 15%.
  • Inclusion in bioXcelerate’s R&D incentive scheme which rewards members for their contribution to innovations that add value to the Optima portfolio.
  • Up to 37 days holiday, inclusive of personal and public allocations, of which 7 are fixed days (Christmas & New Year) and 30 are floating, taken at your discretion subject to client scheduling and line manager approval.
  • Private medical insurance (single cover).
  • Group life & income protection insurance.
  • Salary Sacrifice Pension Scheme after 3 months employment
  • Access to over 1,000 perks and discounts via an employee discount portal.
  • Dedicated development time, tools and funding to support personal and professional development.


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