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Your Responsibilities
We are looking for a skilled genetic diagnosis specialist, with at least 3 years of experience in variant curation and classification according to phenotype, and report creation.
Daily teamwork is crucial to guarantee an agile internal communication, as well as feeding the internal databases with the most accurate information.
Genetic variant classification: Identify, classify, and evaluate genetic variants based on their matching with the phenotypes presented by the patient and their pathogenicity, along with a team of medical experts that will provide a clinical perspective to each specific case.
Report generation: Prepare detailed and clear reports to communicate the selected variants found, along with the interpretation and possible clinical implications.
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