About the Opportunity

We're looking for a variant analyst who will report directly to our GCAT project managers 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.

Position Responsibilities

• Conduct 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
• Variant interpretation using criteria defined in published guidelines
• Review variant nomenclature for potential issues or errors
• Review project statement of work documents to outline 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
• Review and characterization of project data to identify trends, including genotype-phenotype relationships, novel disease mechanisms, etc.
• Utilize and aid in the design of internal software applications for variant interpretation
• Aid in quality assurance/quality control processes
• Participate in team discussions regarding variant curation process and software applications
• Perform other tasks as required to achieve company goals

Required Skills and Background

• Bachelor’s degree in biological sciences with significant genetics background required (Master’s degree in relevant field preferred)
• Laboratory research including performing bench assays or relevant coursework required
• Experience with clinical frameworks including ACMG and AMP guidelines preferred
• Expertise in rapidly assessing clinical and functional information from scientific literature
• Excellent organizational skills, attention to detail, and personal accountability
• Ability to work efficiently and responsible for completing projects 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