Anonymous Company
A company is looking for a Variant Assessment Scientist I – Rare Disease. Key Responsibilities: Write and interpret molecular test results, including relevant medical literature reviews and summaries Participate in updating variant classification guidelines and developing gene-specific
Job Summary
A company is looking for a Variant Assessment Scientist I – Rare Disease.
Key Responsibilities:
- Write and interpret molecular test results, including relevant medical literature reviews and summaries
- Participate in updating variant classification guidelines and developing gene-specific classification guidelines
- Research novel ways to assess sequence variants and manage variant pre-classification workflow
Required Qualifications:
- PhD and/or MD in molecular genetics, human genetics, molecular pathology, or related field, or equivalent experience
- Thorough knowledge of current theories and principles of human genetics
- Experience in reporting specialty and variant assessment is preferred
- Willingness and ability to work in a fast-paced, highly collaborative environment
- PhD degree is preferred