The variant analyst will work at the interface between large-scale genomics, informatics, and disease genetics, and will have an impact on the lives of hundreds of families affected by rare, undiagnosed, or misdiagnosed genetic diseases. They will make use of software to analyze and interpret genetic variation in families and cohorts in order to diagnose patients with genetic disease. The analyst will also manage and coordinate activities for their respective rare disease cohorts and will work in close collaboration with other members of the team, which includes analysts, clinicians, computational biologists, software engineers, and project managers.
RESPONSIBILITIES:
- Directly analyze exome and genome data for identification of disease-causing variants using existing and newly-developed analysis tools. Perform clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria in a CAP/CLIA manner. Prepare reports on analysis findings, maintain currency in training, and support documentation.
- Manage interactions with research and clinical collaborators to facilitate information exchange to help diagnose cases and to confirm new candidate variants and genes. Aid in preparation of grant submissions including, but not limited to, research, writing, and reviewing. Maintain documentation and monitor progress of study samples from project initiation through final reporting and publication.
- Present results and progress at team and other meetings. Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences. Participate in education and mentorship of other staff and collaborators through direct interactions and presentations.
REQUIREMENTS
Master's degree in genetics, pathology, medical laboratory science or a related field and one (1) year of related experience required. Work experience may NOT substitute for education requirement.
Annual Salary: $57,969.60 - $92,206.40
