The Role 

Optima Partners is a leading professional services firm experiencing rapid growth and innovation.  As part of our expansion, we are dedicated to advancing our capabilities in data science and statistical genetics.  We are seeking an exceptional Senior Data Scientist specialising in Statistical Genetics or bioinformatics 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. 

Key Responsibilities 

Research & Development 

• 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. 

Data Management & Compliance 

• 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. 

Communication & Management 

• 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. 

Key Experience and Expertise

Skills & Experience 

• 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. 

Technical Expertise 

• Required o 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 randomisation. o 
• 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. 

The Company 

Optima Partners is an advanced data and business consultancy headquartered in Edinburgh, UK. We are practitioner led and partner with leading consumer brands to drive transformation and catalyse customer-centricity through our expertise in customer strategy, design innovation, and innovative 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. 

Please visit us at www.bioxcelerateai.com.