Job Summary
A genetic testing and diagnostics company is searching for a person to fill their position for a Remote Clinical Variant Curator.
Individual must be able to fulfill the following responsibilities:
- Efficiently review data (ABI, NGS, MLPA, etc.) and approve results according to standard procedures
- Efficiently evaluate and provide assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations
- Assist in development of procedures for classifying genetic variation according to ACMG/AMP guidelines
Must meet the following requirements for consideration:
- Occasional travel (less than 5% of the time)
- Masters in a Life Science such as Molecular Biology/Genetics/Bioinformatics/Biochemistry or equivalent; PhD preferred
- A minimum of 3 years of ABI, NGS, MLPA data interpretation experience
- Clinical laboratory experience in human genetics
- A strong background in Human Genetics
- In-depth understanding of biology, molecular mechanisms and functional studies of human genetic disease genes
