Variant Assessment Scientist I

Job Summary

To advance precision medicine in a remote setting, the full-time Variant Assessment Scientist I will conduct variant analysis of diagnostic molecular genetic test results, evaluate clinical data, and collaborate on research articles with medical professionals.

Key responsibilities:

• Write and interpret molecular test results, including literature reviews and summaries
• Participate in updating and developing variant classification guidelines
• Research novel methods for assessing sequence variants and manage pre-classification workflows

Required qualifications:

• PhD and/or MD in molecular genetics, human genetics, molecular pathology, or a related field; MS with exceptional expertise may also be considered
• Minimum of 2 years of experience in variant assessment
• Prior experience in variant assessment and reporting specialty preferred
• Knowledge of current theories and principles of human genetics
• Cardiology experience preferred