Genetic analyst – São Paulo/SP

Responsabilities

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.

Requirements

• Background: Genetics, Biology, Biotechnology, or any other related field.
• Experience: Minimum 3 years of experience in genetic diagnosis. Furthermore, a solid, demonstrable expertise in diagnostics and variant classification, along with a well-established background in genetics, is not only required but considered indispensable for the candidate.
• Technical knowledge:
  • Experience with genetic databases -e.g., ClinVar, ClinGen, dbSNP, HGMD, Varsome, GnomAD…)
  • Deep knowledge of genetic variant interpretation, especially in the field of genetic diseases/inherited disorders. Previous experience with somatic variants will be well regarded.
• Languages: Fluent in English, both spoken and written.

Marcado como: Biologia Molecular, Genética, Genômica