Lead Bioinformatics Specialist in Human Genetics

2 months ago

Oxford, Oxfordshire, United Kingdom Oxford Nanopore Technologies Full time

Position Overview

We are seeking a dedicated professional with significant expertise in analyzing second and third generation sequencing data related to human diseases to take on the role of a lead bioinformatics specialist in human genetics. This position is critical, bridging research and development, application support, technical assistance, and marketing. The successful candidate will be responsible for assessing the efficacy of both internal and community-driven analysis tools applied to Nanopore Data, collaborating with various partners to enhance and demonstrate essential tools and applications, and conveying insights and performance expectations for application analyses.

The lead bioinformatics specialist will concentrate on human genetics applications, requiring the candidate to possess experience across multiple areas of human genetics bioinformatics analysis, such as genomic variant identification, GWAS/EWAS, and (epi)genotype imputation, as well as advanced analysis of next-generation sequencing data and pangenome methodologies. The individual will work closely with R&D, technical support, and product marketing teams to ensure that our recommendations and performance metrics remain current as data and tools evolve.

Furthermore, the successful candidate will collaborate with market development and population health teams to facilitate large cohort initiatives focused on specific human genetics applications, aiming to promote the integration of nanopore sequencing within clinical and translational health systems and consortia.

Key Responsibilities:

  • Assess, strategize, prioritize, and execute experiments and data analyses, emphasizing the extraction of valuable insights pertinent to the application of Nanopore's sequencing platform in human translational genetics.
  • Design innovative bioinformatics analyses and workflows, establishing best practices tailored for human genetics (e.g., rare disease or population sequencing) while also testing and enhancing existing workflows based on agreed-upon requirements with internal stakeholders.
  • Communicate findings, recommendations, and challenges to internal stakeholders, including commercial teams and R&D.
  • Build and sustain relationships with community leaders in human genetics applications and tool development, collaborating with these experts to identify needs and address gaps in the field.
  • Collaborate with various teams, including customer workflows and commercial teams such as marketing and product management, to integrate bioinformatics solutions and analyses into broader organizational objectives. This includes providing domain-specific expertise to inform priorities and assess feasibility.
  • Work closely with internal stakeholders to deliver technical evaluations, development, and support to key accounts, promoting the wider adoption of human genetics translational applications utilizing nanopore devices.
  • Perform any additional duties as required within the scope of this role.

Qualifications and Experience:

  • Relevant PhD and postdoctoral experience (or equivalent industry experience) with a minimum of 5 years in the Biotechnology Industry focused on Human Genetics.
  • Experience in developing analytical tools and/or workflows for long-read sequencing data in the human genetics domain.
  • Proficiency in bioinformatics and statistics, with a comprehensive understanding of the capabilities 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.
  • A proven track record of successfully conducting bioinformatics sequence analyses across various human genetics projects.
  • Hands-on experience managing and analyzing large datasets while collaborating closely with laboratory scientists to refine experimental and analytical methodologies.
  • Ability to convey technical findings to non-technical internal and external stakeholders.
  • Flexibility and capacity to manage multiple projects concurrently.
  • Familiarity with scripting languages such as Python and R.
  • Current knowledge of the latest literature regarding NGS and human genetics data analysis.

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