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Author: Umsebenzi Remote JOBS
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
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