Variant Assessment Scientist II - Rare Disease Exome

Job Summary

A company is looking for a Variant Assessment Scientist II - Rare Disease/Exome (REMOTE:USA).

Key Responsibilities:

• Write and interpret molecular test results, including relevant medical literature reviews and summary
• Participate in updating variant classification guidelines and developing gene specific classification guidelines
• Research novel ways to assess sequence variants

Required Qualifications:

• PhD and/or MD with expertise in molecular genetics, human genetics, molecular pathology or related field
• Minimum +2 years of experience with variant assessment
• Thorough and ongoing knowledge of current theories and principles of human genetics
• Ability to adapt to significant change that is inherent in development
• Prior experience in variant assessment and reporting specialty preferred