Our LABORATORY MEDICINE AND PATHOLOGY DEPARTMENT has an outstanding full-time position for a Variant Review Scientist. This individual will review and interpret genetic variants from molecular testing and assist lab directors with interpretation and reporting of exciting new genomic-based diagnostic testing in genetics, with a focus on next-generation sequencing for inherited disorders. This includes the review of complex genetic panels, exomes, clinical genomes, and other advanced diagnostic testing applied to large research studies supported by the genetics division of Laboratory Medicine, reviewing research genetics testing results, providing expert interpretation, and developing novel methods and techniques to analyze data.
- Generates data and responsible for review and interpretation of genomic test results under direction of clinical laboratory directors.
- Provide analysis and consultant to physicians and scientists in other departments as needed to guide development, implementation and interpretation of genomic test services.
- Review patient medical history to determine eligibility for exome NGS testing.
- Write patient reports for review by genetics, neurology, and other healthcare specialty clients.
- Interpret data from high complexity genomic techniques including next generation sequencing and arrays.
- Develop and coordinate data analysis strategies and implementation for large research projects.
- Develop relationships and independently consult experts in the field to assist with interpretation of challenging variants.
Development and Maintenance
- Responsible to review genomic data and maintain the active knowledgebase for variant interpretation.
- Update variant curation strategies, variant scoring process, interpretation process, and reporting process on an ongoing basis.
- Develop expertise in interpreting genetic data from open source and proprietary analysis softwares and databases.
- Design of tools to assist in more efficient variant review for the variant review scientist and affiliated faculty.
- Responsible for extensive literature review and provide consult, input and collaborates in interdepartmental journal clubs for ongoing education.
- Responsible to generate, develop, and provide data at client meetings and conferences, when required.