Principal Applications Bioinformatician - Human Genetics

Role Responsibilities 

We are looking for a motivated individual with extensive experience with the analysis of second and third generation sequencing data in the context of human disease to serve as a human genetics bioinformatics applications specialist. The role sit at a pivotal junction of R&D, Applications, technical support, commercial, and Marketing, responsible for evaluating the performance of internal and community analysis tools on Nanopore Data, working with internal and external partners to develop, improve, and showcase important tools and applications, and communicating recommendations and performance expectations for application analyses. 

The human genetics principal bioinformatician will focus on human genetics applications, and the successful candidate will have experience in multiple domains of human genetics bioinformatics analysis (e.g. genomic variant calling, GWAS/EWAS and (epi)genotype imputation, tertiary analysis of next generation sequencing data, pangenome analysis approaches, etc.). The candidate will also work closely with R&D, technical support, and product marketing teams to keep our recommendations and performance metrics up-to-date as data and tools continue to evolve and improve. 

Lastly, the successful candidate will work closely with our market development and population health teams to support large cohort projects on specific human genetics applications, with the aim of driving adoption of nanopore sequencing in clinical and translational health systems and consortia.

Duties include, but are not limited to:

• Evaluate, plan, prioritize and conduct experiments and data analysis with an emphasis on extracting meaningful insights relevant to the application of Nanopore’s sequencing platform to human translational genetics.
• Prototype innovative bioinformatics analysis and pipelines and define best practices, specifically tailored for human genetics (e.g. rare disease or population sequencing, etc.) as well as performance testing and improving of existing pipelines according to requirements agreed on with internal stakeholders.
• Communicate results, recommendations, and problems to internal stake-holders including commercial teams and R&D.
• Develop and maintain relationships with community leaders in human genetics applications and tool development, work with these scientists to understand requirements and gaps in the field, and to remedy them when possible.
• Interface with various teams, including customer workflows and commercial teams like marketing and product management, to integrate bioinformatics solutions and analysis into broader organizational goals. This includes providing domain-specific expert knowledge to inform priorities as well as feasibility.
• Work closely with internal stakeholders to provide technical assessment, development, and support to key accounts in order to promote broader adoption …