Role Description
Responsibilities include variant analysis of diagnostic molecular genetic test results; evaluation of published literature, clinical data and review of both functional and in silico data to provide accurate, thorough, and thoughtful clinical interpretation of results.
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Write research articles in collaboration with other medical professionals and colleagues outside and inside the organization, if data is relevant to the scientific community.
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Additional responsibilities as designated by supervisor/manager and/or with increasing seniority (Senior Variant Assessment Scientist).
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Write and interpret molecular test results, including relevant medical literature reviews and summary.
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Participate in updating variant classification guidelines and developing gene specific classification guidelines.
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Research novel ways to assess sequence variants.
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Manage and follow guidelines of variant pre-classification workflow to maximize reporting results within published turn-around times.
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Train new variant team members or clinical team.
Qualifications
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PhD and/or MD with expertise in molecular genetics, human genetics, molecular pathology or related field.
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MS in molecular biology, genetics or related field with exceptional expertise and outstanding job performance may also be considered.
Requirements
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Thorough and ongoing knowledge of current theories and principles of human genetics.
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Excellent written and verbal communication skills to convey difficult information in a clear, kind, and respectful manner.
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Willingness and ability to work in and contribute to a fast-paced, highly collaborative environment.
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Prior experience in variant assessment and reporting specialty preferred.
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Minimum +2 years of experience with variant assessment.
Company Description