Variant Analysis Scientist
Job Summary
The Variant Analysis Scientist III role focuses on clinical genomics, specifically supporting the Cytogenomics and Exome team. The position involves variant interpretation, clinical reporting, and continuous genetic content development. The role requires advanced expertise in genetics and a commitment to working in a fast-paced, collaborative diagnostic environment.
Responsibilities
- Perform variant interpretation and curation
- Generate clinical reports
- Analyze genetic data and published literature
- Maintain technical competency in genetic disorders
- Develop and maintain SOPs
Required Skills
- Expertise in Genetics or Molecular Biology
- Variant interpretation experience
- Next-generation sequencing knowledge
- Critical thinking and analytical skills
- Technical clinical reporting ability
Job Details
Job Responsibilities:
- Up to 75% of your time performing variant interpretation (aka variant curation) using our validated in-house genetic evidence system to generate clear and concise clinical reports
- Critically analyze and interpret clinical and genetic information, including published literature, public and private databases, functional studies and modeling, as well as patient clinical records
- Develop, curate, and refine genetic content for a broad range of genetic disorders to support our operations and clinical offerings
- Achieve and maintain technical and clinical competency through initial and ongoing training in a fast-paced and dynamic environment
- Receive and provide case-related and performance-related feedback in a direct and supportive setting
- Participate in development and refinement of tools for analyzing genetic data
- Support implementation of process improvements to optimize and scale clinical reporting operations
- Engage with Manager/Senior Manager to support team and departmental objectives
- Develop and maintain standard operating procedures (SOPs) and address internal and client-facing queries regarding variant interpretation and clinical reporting
Minimum Qualifications:
- Ph.D. in Life Sciences, Genetics, Molecular Genetics, or Human Genetics with 1 or more years of variant interpretation experience
- OR Master's degree in Genetic Counseling, Biological Sciences, Molecular Genetics, Human Genetics with 3 or more years of variant interpretation experience
- OR Bachelor's degree in Genetics, Biological Sciences, Molecular Genetics, or Human Genetics with 5 or more years of variant interpretation experience
Preferred Qualifications:
- 2 or more years of experience working in a CLIA diagnostic laboratory
- 1 or more years experience in cytogenomics/cytogenetics/copy number variant analysis
- 1 or more years experience in exome variant analysis
Additional Job Standards:
- Familiarity with next-generation sequencing, and/or knowledge of advanced methods of copy number detection
- Excellent written, verbal, and interpersonal communication skills
- Ability to adapt to significant change that is inherent in development and innovation
- Desire to work in and contribute to a fast-paced, highly collaborative environment
- Demonstrated ability to understand, synthesize, and coherently evaluate complex genetic information
- Strong critical thinking skills and ability to work independently