Title: Variant Classification Scientist/Curator
Department: Hereditary Cancer
Required Education, Skills and Experience:
- MS or PhD graduate degree biology related field. Cancer biology or genetics preferred. BS degree with previous experience can also be considered.
- Excellent writing ability, communication skills, and problem solving.
- Ability to work independently while contributing to interdisciplinary teams.
- Comfortable learning new software.
- Strong preference will be given to applicants with prior clinical experience in interpreting potential pathogenicity of DNA variants.
- Prior experience working with human mutation databases such as dbSNP, ClinVar, COSMIC, etc… to aid in the interpretation of genomic variants.
- Prior experience with genome browsers and HGVS nomenclature.
- Prior experience in a diagnostic laboratory.
Essential Functions/Responsibilities (other duties may be assigned):
Responsible for the management of the laboratory
- Participate on the clinical reporting team to help review, interpret, and discuss genomic variants with potential or known association to hereditary cancers and conditions.
- Ongoing evaluation and review of literature of novel sequence variants relating to hereditary cancer and inherited condition testing to determine clinical relevance and help develop test report language.
- Assist in variant classification based on emerging scientific information
- Summarize genetic test results and generate customized result reports.
- Utilize a variety of in-house software tools to research and write reports.
- Participate in research and development of new gene panels and tests, and updates to existing tests
- Assist in the development of education and marketing materials
- Assist in the development and support of new products in the area of personalized medicine
- Continuing education by attending professional meetings and participating in professional organizations.
Job Type: Full-time