Variant Assessment Scientist I – Rare Disease

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