Lead Bioinformatics Specialist in Human Genetics

3 weeks ago

Oxford, Oxfordshire, United Kingdom Oxford Nanopore Technologies Full time

Position Overview

We are seeking a dedicated professional with substantial expertise in analyzing second and third generation sequencing data within the realm of human genetics. This role is crucial, bridging research and development, application support, and commercial efforts. The successful candidate will be tasked with assessing the efficacy of both proprietary and community-developed analysis tools on Nanopore Data, collaborating with various partners to enhance and demonstrate vital tools and applications, while effectively communicating insights and performance standards for application analyses.

The Lead Bioinformatics Specialist will concentrate on human genetics applications, and the ideal candidate will possess experience across several domains of human genetics bioinformatics analysis, including but not limited to genomic variant calling, GWAS/EWAS, and (epi)genotype imputation, as well as tertiary analysis of next-generation sequencing data and pangenome analysis methodologies. Close collaboration with R&D, technical support, and product marketing teams will be essential to ensure that our recommendations and performance metrics remain current as data and tools evolve.

Additionally, the successful candidate will engage with market development and population health teams to support extensive cohort projects focused on specific human genetics applications, aiming to promote the integration of nanopore sequencing into clinical and translational health systems and consortia.

Key Responsibilities:

  • Assess, strategize, prioritize, and execute experiments and data analyses, focusing on deriving meaningful insights pertinent to the application of Nanopore's sequencing platform in human translational genetics.
  • Design innovative bioinformatics analyses and workflows, establishing best practices specifically for human genetics, including performance evaluation and enhancement of existing pipelines based on agreements with internal stakeholders.
  • Effectively communicate findings, recommendations, and challenges to internal stakeholders, including commercial teams and R&D.
  • Foster and maintain relationships with leaders in the human genetics community, collaborating with these experts to identify needs and address gaps in the field.
  • Collaborate with various teams, including customer workflows and commercial divisions such as marketing and product management, to integrate bioinformatics solutions into broader organizational objectives, providing domain-specific expertise to guide priorities and feasibility.
  • Work closely with internal stakeholders to deliver technical assessments, development, and support to key accounts, facilitating 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:

  • PhD in a relevant field, complemented by postdoctoral experience or equivalent industry experience, alongside a minimum of 5 years in the Biotechnology sector with a focus on Human Genetics.
  • Proven experience in developing analytical tools and/or workflows for long-read sequencing data in human genetics.
  • Strong background in bioinformatics and statistics, with comprehensive knowledge of the capabilities and limitations of existing bioinformatics tools in next-generation sequencing.
  • Experience in at least one application of next-generation sequencing in human genetics.
  • Demonstrated success in conducting bioinformatics sequence analyses across various human genetics projects.
  • Hands-on experience managing and analyzing large datasets, collaborating closely with laboratory scientists to continuously refine experimental and analytical methodologies.
  • Ability to convey technical findings to both technical and non-technical internal and external stakeholders.
  • Flexibility and capacity to manage multiple projects concurrently.
  • Proficiency in scripting languages such as Python and R.
  • Current knowledge of the latest literature regarding NGS and human genetics data analysis.

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