Genomenon seeks a self motivated Variant Analyst III.
If you are enthusiastic about working with a rapidly growing startup, read on!
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.
About the Opportunity
We’re looking for a variant analyst who will report directly to our CSO/VP of Project Management to critically evaluate the scientific literature, interpret the pathogenicity of genetic variants, and help 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.
The job will be dynamic with work duties that will evolve over time as the company grows.
Key Duties Include:
- Responsible for performing 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.
- Participate in meetings with clients, potential clients, and experts in the medical and scientific field.
- Review and development 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.
- Assists in strategic planning for the department or the company.
- Aid in quality assurance/quality control processes.
- Creation of a project-specific SOP to support project completion.
- Actively participate and lead in the team discussions regarding variant curation process and software applications.
- Review and characterization of project data to identify trends, including genotype-phenotype relationships, novel disease mechanisms, etc.
- Participates in gene curation projects.
- Utilize and aid in the design of internal software applications for variant interpretation.
- Guide the general direction of the project, ensuring the needs of the client are sufficiently addressed.
- Responsible for leading larger projects or review of new software applications.
- Aid in training of new team members and responding to questions related to the curation process.
- Review and development of company and department SOPs.
- Troubleshooting of project specific and global issues in the variant curation process or software applications.
- Experience in variant analysis.
- Bachelor’s degree or higher in biological sciences.
- Experience with clinical frameworks including ACMG and AMP guidelines required.
- Laboratory research including performing bench assays or relevant coursework required.
- Expertise in rapidly assessing clinical and functional information from the scientific literature.
- Excellent organizational skills, attention to detail, and personal accountability.
- Ability to work efficiently and responsible for completing projects within assigned deadlines as an individual and in a team.
- Self-motivation and strong work ethic with a “can-do” positive attitude.
If you have any questions, please email firstname.lastname@example.org
Genomenon is an equal opportunity employer and committed to diversity, equity, and inclusion. All qualified applicants will receive consideration for employment without regard to race, color, religion, age, sex, national origin, disability, or sexual orientation or any other characteristic protected by federal, state or local laws.