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 of human genetics translational applications using nanopore devices
• Any other duties as might be required within the remit and responsibilities of the post.

Qualifications and Experience 

• Relevant Phd and post doc (or equivalent industry experience) plus 5 year Biotechnology Industry Experience with Human Genetics focus 
• Experience of developing analysis tools and/or pipelines for long read sequencing data in the field of human genetics
• Expertise in bioinformatics and statistics. In-depth knowledge of the range and limitations of existing bioinformatics tools in the context of next generation sequencing.
• Experience in at least one human genetics application of next generation sequencing
• Track record of successfully performing appropriate bioinformatics sequence analyses for a range of different kinds of human genetics project
• Practical experience of handling and analyzing large data sets and working closely with lab scientists to continually refine the experimental and analytical approaches
• Ability to communicate technical findings to non-technical internal and external stakeholders 
• Versatility and the ability to work on multiple projects simultaneously
• Experience with scripting languages e.g. Python, R etc.
• Up to date with latest literature about NGS and analysis of human genetics data

Please note that no terminology in this advert is intended to discriminate on the grounds of a person's gender, marital status, race, religion, color, age, disability or sexual orientation. Every candidate will be assessed only in accordance with their merits, qualifications and abilities to perform the duties of the job.

The salary for this role is between $149,953  to $224,929 USD. The salary offered will reflect the skills and experience of the candidate. 

Certain roles within ONT are eligible annual bonus and stock. These awards are allocated based on individual performance. 

Employees based in the US have the option to choose healthcare benefits, participate in the company 401(k) plan and company match, we also offer short-term and long-term disability coverage, basic life insurance, and commuter benefits to name a few. 

We are proud to be an equal opportunity employer. We select and employ candidates only in accordance with their merits, qualifications, and abilities to perform the duties of the job regardless of gender, marital status, race, religion, color, age, disability, sexual orientation, military or veteran status. If you require an accommodation to complete the application or interview process, please contact human.resources@nanoporetech.com To learn more, visit: https://www.dol.gov/ofccp/regs/compliance/posters/pdf/eeopost.pdf

#LI-KK1

#LI-Remote

Oxford Nanopore’s goal is to bring the widest benefits to society through enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology enabling the real-time, high-performance, accessible and scalable analysis of DNA and RNA. The technology is used in more than 100 countries to understand the biology of humans and diseases, plants, animals, bacteria, viruses and whole environments.

Oxford Nanopore was founded in 2005 as a spin-out from the University of Oxford and now employs over 1000 employees around the world.