Genomenon is a genomic health IT company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer.
The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.
Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence. Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.
We are a mission-driven organization, whose culture ascribes to these core values:
- Always Learning: We approach challenges with curiosity and a growth mindset
- Data-Driven: We ask a lot of questions and look to the evidence for answers
- Humbly Confident: We are aware of the value that we and others bring to the team
- Trailblazers: We imagine what can be, not what is
- True Grit: We embody passion and persistence, and aren’t afraid of hard work
What We’re Looking For
We’re looking for a Quality Assurance Specialist who will report directly to our Product Quality Manager to critically evaluate the scientific literature, review projects with a focus on ensuring quality and adherence to our classification processes, 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.
- Perform quality assurance/quality control on variant curation projects
- Review the summarize evidence and interpretation criteria assigned to variant literature
- Review and update internal QA/QC procedures and QA/QC SOP
- Review and characterization of project data for identifying trends, including genotype-phenotype relationships, novel disease mechanisms, etc.
- Actively participate in discussions regarding variant curation process and software applications
- Aid in training of new team members and responding to questions related to the curation and QA/QC process
- Troubleshooting of project specific and global issues in the variant curation process or software applications
- 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
- 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 knowledge base for genetic conditions to provide a foundation for variant interpretation procedures
- Creation and reviewal 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
- Perform other tasks as required to achieve company goals
Required Skills and Background
- Master’s degree or higher in relevant field preferred; however, BS or BA degree in biological sciences with significant genetics background will be considered
- Previous experience in variant analysis and quality assurance/quality control
- Experience with clinical frameworks including ACMG and AMP guidelines required
- Expertise in rapidly assessing clinical and functional information from the scientific literature
- Demonstrated ability to work in a team environment
- We look for these values in new team members, we foster them in ourselves, and we take responsibility for them.
Perks and Benefits: Competitive compensation, health insurance, PTO and holidays, 401K, stock options, and a great work environment.
Please APPLY HERE if you are interested!
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.