Skill:
Strong background in molecular genetics, human genetics, molecular pathology, or related medical specialties is necessary. Should have a good understanding of sequencing technologies (Sanger and next generation sequencing). A familiarity with professional standards for variant classification is preferred. Experience in germline and/or somatic variant curation using in silico analysis tools, variant databases, and primary literature evaluation is strongly desired. Must have a demonstrated ability to work in a fast-paced, team-based environment. The candidate must also display excellent oral and written communication skills, superior problem-solving and organizational skills, and strong attention to detail. Must have computer skills appropriate for laboratory practice. Skills in statistical analysis, bioinformatics, or complex data integration preferred.
Duties:
The Variant Scientist functions in the clinical lab interpretive team, evaluating genomic test results to determine the pathogenicity and clinical significance of germline and somatic variants. The Variant Scientist evaluates functional, computational, and clinical data to assess variant pathogenicity, and summarizes pertinent data for patient reports. The Variant Scientist develops and maintains gene-level curation resources to support clinical test interpretation. The Variant Scientist participates as appropriate in gene/variant curation-focused publications, database submissions, professional collaborations, and presentations at professional meetings. The Variant Scientist plays an active role in education and training of laboratory fellows and residents, graduate students, lab staff, and other students and trainees. The Variant Scientist contributes to ongoing process improvement in interpretive workflows and participates in new test development and implementation.
Job Category:
Clinical-Allied-Travel •
Last updated on Aug 22, 2023