The Staff Scientist position on the Human Genome Sequencing Center's (HGSC) Quality Control team will apply expertise in the area of genomic sequencing analysis of clinical samples for clinical sequencing projects. These projects are highly visible and impact the national reputation of the HGSC and of Baylor College of Medicine. The Variant Annotation Workgroup at the Human Genome Sequencing Center is responsible for interpreting genomic variants that are detected in patient samples. To do so, this team reviews genomic variants and applies American College of Medical Genetics (ACMG) guidelines to interpret the pathogenicity of genetic variants in those samples. In this role, team members will work as part of a high-throughput, largely automated system to create clinical reports that deliver genomic insights back to the clinician and ultimately the patient.Job Duties
- Essential Duties and Responsibilities:
- Analyzes and interprets clinical genetic test results according to ACMG variant interpretation guidelines.
- Records relevant information about genetic variants into the review interface.
- Functions as a technical writer in generating clinical reports, validation project documents, and other scientific documents/reports.
- Works closely with variant review team members under supervision of the Division Director/Lab Director.
- Environment/Safety/Work Environment:
- Maintains a clean, neat, and orderly work area.
- Adheres to Department Specific Safety Guidelines.
- Other Duties:
- Adheres to department rules and protocols as well as company regulations stated in the Employee handbook.
- Maintains a pleasant and cooperative relationship with co-workers and other departments.
- Complies with CAP, CLIA, HIPAA, and all relevant Federal, State, and local regulations.
- Participates in the laboratory's quality management system.
- Doctoral Degree. Experience may not be substituted in lieu of degree.
- Three years of post doctoral research experience.
- Previous experience with variant interpretation and familiarity with next generation sequencing is preferred.
- Must meet the requirements for Testing Personnel under CLIA regulations (42 CFR, part 493).
Baylor College of Medicine is an Equal Opportunity/Affirmative Action/Equal Access Employer.