Do you have experience in variant analysis with a desire to join a great start-up? 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.
Always learning – We approach challenges with curiosity and a growth mindset.
Data-Driven – We ask questions and answer them with evidence.
Humbly Confident – We trust ourselves and one another.
Trail Blazers – We blaze trails by focusing on what could be, not what is or was.
True Grit – We embody passionate resilience and approach our work with positive persistence.
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 and interpret the pathogenicity of genetic variants for 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
- 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 statement of work documents for identifying project requirements
- Review and critically examine current knowledgebase for genetic conditions to provide a foundation for variant interpretation procedures
- Creation of a project-specific SOP to enable timely and accurate project completion
- 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
- Aid in quality assurance/quality control processes
- Actively participate in the 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
- Guide the general direction of the project, ensuring the needs of the client are sufficiently addressed
- Review and development of company and department SOPs
- Perform other tasks and responsibilities as required to achieve company goals
- 2 years of previous experience in variant analysis
- Master’s degree or higher in relevant field preferred; however, BS or BA degree in biological sciences with significant genetics background will be considered
- 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 project within assigned deadlines
- Demonstrated ability to work in a team environment
- Self-motivation and strong work ethic with a “can-do” positive attitude
- Desire to contribute to a fast-paced, high-energy start-up culture
- We look for these values in new team members, we foster them in ourselves, and we take responsibility for them.
Competitive compensation structure, health insurance, PTO and holidays, a great work environment, and equity participation opportunities.
If you have questions, please email email@example.com
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, religion, gender identity, veteran status, disability status, sexual orientation, or any other characteristic protected by federal, state or local laws.