Quality Assurance Manager
Who are We?
Genomenon is an AI-driven genomics company. Our mission is to save and improve lives by making genomic information actionable. We organize the world’s genomic knowledge and put it at the fingertips of clinicians to help diagnose and treat patients suffering from rare diseases and cancer, and to help precision medicine companies create targeted therapies for diseases.
General Summary of Duties
Genomenon is looking for a quality assurance manager who will report directly to our CSO/VP of Project Management to critically evaluate the scientific literature, review projects with a focus on ensuring quality and adherence to the classification processes, and lead projects requested by clinical and pharmaceutical clients. These projects include but are not limited to the development of comprehensive, annotated databases of genetic variants for a particular disease/gene, and the development of patient-focused databases with detailed genotype and phenotype information. The exact subject of these projects varies depending on the client’s needs and will require adaptability in order to develop expertise across a wide range of use cases.
Key Duties Include:
- Perform quality assurance/quality control on variant curation projects.
- Review the summarized evidence and interpretation criteria assigned to variant literature.
- Review and update internal QA/QC procedures .
- Development and updates to QA/QC and department SOP.
- Aid in leading larger projects or new software applications.
- Review and characterization of project data for identifying trends, including genotype-phenotype relationships, novel disease mechanisms, etc.
- Actively participate and responsible for leading team discussions regarding variant curation process and software applications.
- Aid in training of new team members and responding to questions related to the curation process.
- Troubleshooting of project specific and global issues in the variant curation process or software applications.
- Assists in strategic planning for the department or the company.
- Independently perform a detailed review of scientific literature to identify and summarize evidence of pathogenicity for genetic variants – including case/cohort studies, functional studies, and review articles.
- Perform variant interpretation using criteria defined in published guidelines.
- Review variant nomenclature and ensure all variants are normalized to HGVS guidelines using the canonical transcript.
- Review of project statements of work documents for identifying project requirements.
- Review and critically examine current knowledge base for genetic conditions to provide a foundation for variant interpretation procedures.
- Creation of a project-specific SOP to enable timely and accurate project completion.
- Participates in gene curation projects.
- Utilize and aid in the design of internal software applications for variant interpretation.
- Aid in quality assurance/quality control processes.
- Guide the general direction of the project, ensuring the needs of the client are sufficiently addressed.